Current status of newborn screening worldwide: 2015

Therrell, Bradford L.; Padilla, Carmencita David; Loeber, J. Gerard; Kneisser, Issam; Saadallah, Amal; Borrajo, Gustavo J.C.; Adams, John

doi:10.1053/j.semperi.2015.03.002

Cited by 602Metabolism and Genetic DisordersNeonatal Health and BiochemistryGenomics and Rare Diseases

Current status of newborn screening worldwide: 2015

Therrell, Bradford L., Padilla, Carmencita David, Loeber, J. Gerard, Kneisser, Issam, Saadallah, Amal, Borrajo, Gustavo J.C., Adams, John·2015·Seminars in Perinatology

DOI 10.1053/j.semperi.2015.03.002

Open this paper in CoChat — free account

Abstract

Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers have described various newborn screening activities around the world, including a series of papers in 2007, a comprehensive review of ongoing activities since that time has not been published. In this report, we divide the world into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years. We have also provided an extensive reference listing and summary of NBS and health data in tabular form.

Integrity signals

Registry

Crossref · 10.1053/j.semperi.2015.03.002

Cites

165 of 165 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Variations of complement component C4 may influence the risk of psychopathology.
“and variations of the complement component C4 may influence the risk of psychopathology (229).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [229]

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Kwan, A., Abraham, R. S., Currier, R. J., et al. (2014) · JAMA · doi:10.1001/jama.2014.9132 · Cited by 683 · see citing works
European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism
Léger, J., Olivieri, A., Donaldson, M., Torresani, T., Krude, H., van Vliet, G., Polak, M., Butler, G., & on behalf of ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE, A. T. C. H. C. C. G. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1891 · Cited by 569 · see citing works
Executive Summary
Watson, M. S., Mann, M. Y., Lloyd-Puryear, M. A., Rinaldo, P., & Howell, R. R. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000223891.82390.ad · Cited by 492 · see citing works
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Mechtler, T. P., Stary, S., Metz, T. F., et al. (2012) · The Lancet · doi:10.1016/s0140-6736(11)61266-x · Cited by 298 · see citing works
Serving the Family From Birth to the Medical Home
From the AAP Newborn Screening Task Force, E. G. V. (2000) · PEDIATRICS · doi:10.1542/peds.106.s2.389 · Cited by 261 · see citing works
Neonatal screening in Europe; the situation in 2004
Loeber, J. G. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0644-5 · Cited by 251 · see citing works
Self-citation
European best practice guidelines for cystic fibrosis neonatal screening
Castellani, C., Southern, K. W., Brownlee, K. G., et al. (2009) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2009.01.004 · Cited by 246 · see citing works
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years
Kwan, A., Church, J. A., Cowan, M. J., et al. (2013) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2013.04.024 · Cited by 217 · see citing works
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 – From blood spot to screening result
Loeber, J. G., Burgard, P., Cornel, M. C., et al. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9483-0 · Cited by 201 · see citing works
Self-citation
Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri
Hopkins, P. V., Campbell, C., Klug, T. L., Rogers, S., Raburn-Miller, J., & Kiesling, J. (2014) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2014.09.023 · Cited by 198 · see citing works
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Stockman, J. A. (2012) · Yearbook of Pediatrics · doi:10.1016/j.yped.2012.03.067 · Cited by 198 · see citing works
Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns
Tshilolo, L. M., Aissi, L.-M., Lukusa, D., et al. (2008) · Journal of Clinical Pathology · doi:10.1136/jcp.2008.058958 · Cited by 192 · see citing works
Newborn Screening for Krabbe Disease: the New York State Model
Duffner, P. K., Caggana, M., Orsini, J. J., Wenger, D. A., Patterson, M. C., Crosley, C. J., Kurtzberg, J., Arnold, G. L., Escolar, M. L., Adams, D. J., et al. (2009) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2008.11.010 · Cited by 187 · see citing works
Newborn screening for cystic fibrosis
Southern, K. W., Mérelle, M. E., Dankert-Roelse, J. E., & Nagelkerke, A. F. (2009) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd001402.pub2 · Cited by 179 · see citing works
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method
Hubbard, W. C., Moser, A. B., Liu, A. C., Jones, R. O., Steinberg, S. J., Lorey, F., Panny, S. R., Vogt Jr., R. F., Macaya, D., & Turgeon, C. T. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.03.010 · Cited by 177 · see citing works
SCREENING NEWBORNS FOR SICKLE CELL DISEASE IN GHANA
Ohene‐Frempong, K., Oduro, J. K., Tetteh, H., & Nkrumah, F. (2008) · PEDIATRICS · doi:10.1542/peds.2007-2022uuu · Cited by 168 · see citing works
Sickle cell disease in Middle East Arab countries
El-Hazmi, M. A. F., Al-Hazmi, A. M., & Warsy, A. S. (2011) · The Indian Journal of Medical Research · doi:10.4103/0971-5916.90984 · Cited by 165 · see citing works
The Evolution of Early Hearing Detection and Intervention Programs in the United States
White, K. R., Forsman, I., Eichwald, J., & Muñoz, K. F. (2010) · Seminars in Perinatology · doi:10.1053/j.semperi.2009.12.009 · Cited by 156 · see citing works
Newborn screening in the Asia Pacific region
Padilla, C. D., & Therrell, B. L. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0687-7 · Cited by 155 · see citing works
Self-citation
Newborn screening in Latin America at the beginning of the 21st century
Borrajo, G. J. C. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0669-9 · Cited by 149 · see citing works
Self-citation
Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US department of health and human services secretary's advisory committee on heritable disorders in newborns and children
Kemper, A. R., Green, N. S., Calonge, N., Lam, W. K. K., Comeau, A. M., Goldenberg, A. J., Ojodu, J., Prosser, L. A., Tanksley, S., & Bocchini Jr, J. A. (2014) · Genetics in Medicine · doi:10.1038/gim.2013.98 · Cited by 142 · see citing works
Newborn screening in North America
Therrell, B. L., & Adams, J. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0690-z · Cited by 141 · see citing works
Self-citation
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
Chien, Y., Lee, N., Chen, C., Tsai, F., Tsai, W., Shieh, J., Huang, H.-J., Hsu, W., Tsai, T., & Hwu, W. (2014) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2014.10.068 · Cited by 139 · see citing works
Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)
Verbsky, J. W., Baker, M. W., Grossman, W. J., et al. (2011) · Journal of Clinical Immunology · doi:10.1007/s10875-011-9609-4 · Cited by 139 · see citing works
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
Mayell, S. J., Munck, À., Craig, J. V., et al. (2008) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2008.09.005 · Cited by 127 · see citing works
Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study
Inoue, T., Hattori, K., Ihara, K., et al. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.48 · Cited by 124 · see citing works
Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards
Morinishi, Y., Imai, K., Nakagawa, N., et al. (2009) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2009.05.026 · Cited by 121 · see citing works
History and current status of newborn screening for severe combined immunodeficiency
Kwan, A., & Puck, J. M. (2015) · Seminars in Perinatology · doi:10.1053/j.semperi.2015.03.004 · Cited by 118 · see citing works
A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola
McGann, P. T., Ferris, M. G., Ramamurthy, U., Santos, B., de Oliveira, V., Bernardino, L., & Ware, R. E. (2013) · American Journal of Hematology · doi:10.1002/ajh.23578 · Cited by 118 · see citing works
Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: Lessons from pilot studies
Tshilolo, L. M., Kafando, É., Sawadogo, M., COTTON, F. J., Vertongen, F., Ferster, A., & Gulbis, B. (2008) · Public Health · doi:10.1016/j.puhe.2007.12.005 · Cited by 118 · see citing works
Expanded newborn screening in Europe 2007
Bodamer, O. A., Hoffmann, G. F., & Lindner, M. S. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0666-z · Cited by 116 · see citing works
Newborn Screening for SCID in New York State: Experience from the First Two Years
Vogel, B. H., Bonagura, V. R., Weinberg, G. A., et al. (2014) · Journal of Clinical Immunology · doi:10.1007/s10875-014-0006-7 · Cited by 114 · see citing works
Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan
Liao, H.-C., Chiang, C.-C., Niu, D., et al. (2014) · Clinica Chimica Acta · doi:10.1016/j.cca.2014.01.030 · Cited by 113 · see citing works
Newborn screening for lysosomal storage disorders
Matern, D., Gavrilov, D. K., Oglesbee, D., et al. (2015) · Seminars in Perinatology · doi:10.1053/j.semperi.2015.03.005 · Cited by 108 · see citing works
Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience
Shi, X., Juan, C., Wang, Y.-Y., et al. (2012) · JIMD Reports · doi:10.1007/8904_2011_119 · Cited by 107 · see citing works
Newborn screening: Experiences in the Middle East and North Africa
Saadallah, A. A. A., & Rashed, M. S. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0660-5 · Cited by 104 · see citing works
Self-citation
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow‐up and quality assurance
Burgard, P., Rupp, K., Lindner, M. S., Haege, G., Rigter, T., Weinreich, S. S., Loeber, J. G., Taruscio, D., Vittozzi, L., Cornel, M. C., et al. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9484-z · Cited by 104 · see citing works
Self-citation
Newborn Screening for Lysosomal Storage Diseases
Gelb, M. H., Scott, C. R., & Tureček, F. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2014.225771 · Cited by 102 · see citing works
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening
Sermet‐Gaudelus, I., Mayell, S. J., & Southern, K. W. (2010) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2010.04.008 · Cited by 97 · see citing works
Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
Taylor, J. L., Lee, F. K., Yazdanpanah, G., Staropoli, J. F., Liu, M., Carulli, J. P., Sun, C., Dobrowolski, S. F., Hannon, W. H., & Vogt, R. F. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2014.231019 · Cited by 86 · see citing works
Whole-Genome Sequencing in Newborn Screening Programs
Knoppers, B. M., Sénécal, K., Borry, P., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3008494 · Cited by 86 · see citing works
Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
Chiang, S.-C., Hwu, W., Lee, N., et al. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.04.013 · Cited by 82 · see citing works
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
Lin, S., Lin, S.-P., Wang, T.-J., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-147 · Cited by 82 · see citing works
A large‐scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment
Yang, C., Liu, H.-C., Hsu, T., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36197 · Cited by 81 · see citing works
Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening
Olney, R. S., Ailes, E. C., & Sontag, M. K. (2015) · Seminars in Perinatology · doi:10.1053/j.semperi.2015.03.007 · Cited by 76 · see citing works
Forecasting Hemoglobinopathy Burden Through Neonatal Screening in Omani Neonates
Alkindi, S. S. A., Zadjali, S. A., Madhani, A. A., Daar, S., Al-Haddabi, H., Abri, Q. A., Gravell, D., Berbar, T., Pravin, S., Pathare, A. V., et al. (2010) · Hemoglobin · doi:10.3109/03630261003677213 · Cited by 74 · see citing works
Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program
Lim, J. S. C., Tan, E. S., John, C., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.07.018 · Cited by 72 · see citing works
Neonatal screening for congenital hypothyroidism and phenylketonuria in China
Zhan, J., Qin, Y., & Zhao, Z. (2009) · World Journal of Pediatrics · doi:10.1007/s12519-009-0027-0 · Cited by 71 · see citing works
Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules
Auray‐Blais, C., Cyr, D., & Drouin, R. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0607-x · Cited by 70 · see citing works
Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay
Adams, S. P., Rashid, S., Premachandra, T., et al. (2014) · Journal of Clinical Immunology · doi:10.1007/s10875-014-0007-6 · Cited by 69 · see citing works
Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening
Therrell, B. L., Hannon, W. H., Bailey, D. B., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182147639 · Cited by 69 · see citing works
Self-citation
Public views on participating in newborn screening using genome sequencing
Bombard, Y., Miller, F. A., Hayeems, R. Z., Barg, C. J., Cressman, C., Carroll, J. C., Wilson, B. J., Little, J., Avard, D. M., Painter-Main, M. A., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.22 · Cited by 68 · see citing works
Public Attitudes Regarding the Use of Residual Newborn Screening Specimens for Research
Botkin, J. R., Rothwell, E., Anderson, R., Stark, L., Goldenberg, A., Lewis, M., Burbank, M., & Wong, B. (2012) · Pediatrics · doi:10.1542/peds.2011-0970 · Cited by 68 · see citing works
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document
Cornel, M. C., Rigter, T., Weinreich, S. S., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.90 · Cited by 65 · see citing works
Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013
Heather, N. L., Seneviratne, S. N., Webster, D., Derraik, J. G. B., Jefferies, C., Carll, J., Jiang, Y., Cutfield, W. S., & Hofman, P. L. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3168 · Cited by 65 · see citing works
First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.
Paciotti, S., Persichetti, E., Pagliardini, S., Deganuto, M., Rosano, C., Balducci, C., Codini, M., Filocamo, M., Menghini, A., Pagliardini, V., et al. (2012) · Clinica chimica acta; international journal of clinical chemistry · doi:10.1016/j.cca.2012.07.011 · Cited by 64 · see citing works
Genomics and Health in the Developing World
(2012) · Oxford University Press eBooks · doi:10.1093/med/9780195374759.001.0001 · Cited by 63 · see citing works
Consolidating newborn screening efforts in the Asia Pacific region
on behalf of the Working Group of the Asia Pacific Society for Human Genetics on Consolidating Newborn Screening Efforts in the Asia Pacific Region, Padilla, C. D., & Therrell, B. L. (2012) · Journal of Community Genetics · doi:10.1007/s12687-011-0076-7 · Cited by 61 · see citing works
Self-citation
Health policy for sickle cell disease in Africa: experience from Tanzania on interventions to reduce under‐five mortality
Makani, J., Soka, D., Rwezaula, S. S., et al. (2014) · Tropical Medicine & International Health · doi:10.1111/tmi.12428 · Cited by 61 · see citing works
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy
Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D., & Tortorelli, S. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.11.013 · Cited by 60 · see citing works
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg
Lindner, M. S., Abdoh, G., Fang‐Hoffmann, J., et al. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0553-7 · Cited by 59 · see citing works
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011
Hosani, H. A., Salah, M., Osman, H. M., et al. (2014) · Eastern Mediterranean Health Journal · doi:10.26719/2014.20.1.17 · Cited by 58 · see citing works
Newborn Screening by Tandem Mass Spectrometry
Sweetman, L. (2001) · Clinical Chemistry · doi:10.1093/clinchem/47.11.1937 · Cited by 57 · see citing works
Newborn screening in southeastern Europe
Grošelj, U., Tanšek, M. Ž., Šmon, A., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.07.020 · Cited by 57 · see citing works
Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible
Theda, C., Gibbons, K., DeFor, T. E., Donohue, P. K., Golden, W. C., Kline, A. D., Gulamali-Majid, F., Panny, S. R., Hubbard, W. C., Jones, R. O., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.10.019 · Cited by 56 · see citing works
Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain
Golbahar, J., Aljishi, E., Altayab, D. D., et al. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.07.006 · Cited by 51 · see citing works
The Development and Organization of Newborn Screening Programs in Turkey
Tezel, B., Díllí, D., Bolat, H., et al. (2013) · Journal of Clinical Laboratory Analysis · doi:10.1002/jcla.21645 · Cited by 51 · see citing works
Population screening for Wilson's disease
Hahn, S. H. (2014) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12423 · Cited by 49 · see citing works
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency
Pasquali, M., Schwarz, E. L., Jensen, M., Yuzyuk, T. N., DeBiase, I., Randall, H., & Longo, N. (2013) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-013-9662-7 · Cited by 48 · see citing works
Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study
AUDRAIN, M. A. P., Thomas, C., Mirallié, S., et al. (2013) · Clinical Immunology · doi:10.1016/j.clim.2013.11.012 · Cited by 47 · see citing works
Newborn Screening: Need of the Hour in India
Verma, I. C., Bijarnia‐Mahay, S., Jhingan, G., et al. (2014) · The Indian Journal of Pediatrics · doi:10.1007/s12098-014-1615-0 · Cited by 47 · see citing works
Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN
Botkin, J. R., Lewis, M., Watson, M. S., et al. (2014) · PEDIATRICS · doi:10.1542/peds.2013-2271 · Cited by 47 · see citing works
Citizens’ Values Regarding Research With Stored Samples From Newborn Screening in Canada
Bombard, Y., Miller, F. A., Hayeems, R. Z., Carroll, J. C., Avard, D. M., Wilson, B. J., Little, J., Bytautas, J., Allanson, J. E., Axler, R. E., et al. (2012) · PEDIATRICS · doi:10.1542/peds.2011-2572 · Cited by 46 · see citing works
Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots
Inaba, Y., Schwartz, C. E., Bui, M., Li, X., Skinner, C. D., Field, M. J., Wotton, T., Hagerman, R. J., Francis, D. I., Amor, D. J., et al. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2013.217331 · Cited by 46 · see citing works
Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients
Riyami, S. A., Maney, M. A., Joshi, S. N., et al. (2012) · Oman Medical Journal · doi:10.5001/omj.2012.115 · Cited by 44 · see citing works
Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.
Somech, R., Lev, A., Simon, A. J., et al. (2013) · PubMed · Cited by 44 · see citing works
Hipotireoidismo congênito: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia
Maciel, L. M. Z., Kimura, E. T., Nogueira, C. R., Mazeto, G. M. F. D. S., Magalhães, P. K. R., Nascimento, M. L., Nesi-França, S., & Vieira, S. E. (2013) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302013000300004 · Cited by 41 · see citing works
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry
la Marca, G., Giocaliere, E., Malvagia, S., et al. (2013) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/j.jpba.2013.08.044 · Cited by 41 · see citing works
High-Throughput Genotyping on Archived Dried Blood Spot Samples
Hollegaard, M. V., Grove, J., Thorsen, P., Nørgaard‐Pedersen, B., & HOUGAARD, D. M. (2009) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2008.0073 · Cited by 40 · see citing works
Newborn screening for Pompe disease in Japan
Oda, E., Tanaka, T., Migita, O., et al. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.09.002 · Cited by 39 · see citing works
Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by Screening ATP7B Major Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System
Kim, G.-H., Yang, J. Y., Park, J., et al. (2008) · Genetic Testing · doi:10.1089/gte.2008.0016 · Cited by 38 · see citing works
Newborn Screening for Severe Combined Immunodeficiency
Randolph, D., Routes, J., & Verbsky, J. (2013) · NeoReviews · doi:10.1542/neo.14-9-e448 · Cited by 36 · see citing works
Conference report: Second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities
Krotoski, D. M., Namaste, S. M. L., Raouf, R., El-Nekhely, I., Hindi-Alexander, M. C., Engelson, G., Hanson, J. W., & Howell, R. R. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181ab2277 · Cited by 35 · see citing works
Newborn Screening: From Guthrie to Whole Genome Sequencing
Caggana, M., Jones, E. A., Shahied, S. I., et al. (2013) · Public Health Reports · doi:10.1177/00333549131280s204 · Cited by 35 · see citing works
Barriers to implementing sustainable national newborn screening in developing health systems☆
Therrell, B. L., & Padilla, C. D. (2014) · International Journal of Pediatrics and Adolescent Medicine · doi:10.1016/j.ijpam.2014.10.004 · Cited by 34 · see citing works
Self-citation
Quantitation of RNA decay in dried blood spots during 20 years of storage
Gauffin, F., Nordgren, A., Barbany, G., et al. (2009) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.2009.351 · Cited by 34 · see citing works
Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling
Dobrowolski, S. F., Pham, H. T. T., Downes, F. P., et al. (2012) · Clinical Chemistry · doi:10.1373/clinchem.2012.183038 · Cited by 34 · see citing works
Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease
Mercimek‐Andrews, S., Sinclair, G. B., van Dooren, S. J. M., Kanhai, W. A., Ashcraft, P., Michel, O. J., Nelson, J., Betsalel, O. T., Sweetman, L., Jakobs, C., et al. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.07.022 · Cited by 33 · see citing works
High-throughput mutational analysis of TOR1A in primary dystonia
Xiao, J., Bastian, R. W., Perlmutter, J. S., et al. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-24 · Cited by 32 · see citing works
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
Wang, L., Chen, N.-I., Chen, P.-W., et al. (2013) · BMC Medical Genetics · doi:10.1186/1471-2350-14-24 · Cited by 31 · see citing works
Patterns of inborn errors of metabolism: A 12 year single-center hospital-based study in Libya
Alobaidy, H. (2014) · Qatar medical journal · doi:10.5339/qmj.2013.18 · Cited by 30 · see citing works
Assessment of Liquid Microbead Arrays for the Screening of Newborns for Spinal Muscular Atrophy
Pyatt, R. E., Mihal, D. C., & Prior, T. W. (2007) · Clinical Chemistry · doi:10.1373/clinchem.2007.092312 · Cited by 30 · see citing works
Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test
Mutesa, L., Boemer, F., Ngendahayo, L., Rulisa, S., Rusingiza, E. K., Cwinya-Ay, N., Mazina, D., Kariyo, P. C., Bours, V., & Schoos, R. (2007) · Journal of Medical Screening · doi:10.1258/096914107782066211 · Cited by 29 · see citing works
Concerns of Newborn Blood Screening Advisory Committee Members Regarding Storage and Use of Residual Newborn Screening Blood Spots
Rothwell, E., Anderson, R. A., Burbank, M. J., et al. (2011) · American Journal of Public Health · doi:10.2105/ajph.2010.200485 · Cited by 29 · see citing works
Using Formative Research to Develop a Counselor Training Program for Newborn Screening in Ghana
Treadwell, M. J., Anie, K. A., Grant, A. M., Ofori-Acquah, S. F., & Ohene‐Frempong, K. (2014) · Journal of Genetic Counseling · doi:10.1007/s10897-014-9759-7 · Cited by 29 · see citing works
Overview of newborn hearing screening activities in Latin America.
de García, B. G., Gaffney, C., Chacon, S., et al. (2011) · PubMed · Cited by 29 · see citing works
Newborn screening and cascade testing for FMR1 mutations
Sorensen, P. L., Gane, L. W., Yarborough, M. A., Hagerman, R. J., & Tassone, F. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35680 · Cited by 28 · see citing works
Use of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population
Han, M., Jun, S., Song, S. H., et al. (2011) · Annals of Laboratory Medicine · doi:10.3343/kjlm.2011.31.4.250 · Cited by 28 · see citing works
Primer estudio piloto en España sobre el cribado neonatal de las inmunodeficiencias primarias: TRECS y KRECS identifican linfopenias T y B graves
Olbrich, P., de Felipe, B., Delgado‐Pecellín, C., et al. (2014) · Anales de Pediatría · doi:10.1016/j.anpedi.2014.08.002 · Cited by 27 · see citing works
Results from 28 Years of Newborn Screening for Congenital Adrenal Hyperplasia in Sapporo
Morikawa, S., Nakamura, A., Fujikura, K., Fukushi, M., Hotsubo, T., Miyata, J., Ishizu, K., & Tajima, T. (2014) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.23.35 · Cited by 26 · see citing works
Informed Choice for Newborn Blood Spot Screening in the United Kingdom: A Survey of Parental Perceptions
Nicholls, S. G., & Southern, K. W. (2012) · PEDIATRICS · doi:10.1542/peds.2012-1479 · Cited by 24 · see citing works
Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia.
Feleke, Y., Enquoselassie, F., Deneke, F., Abdulkadir, J., Hawariat, G. W., Tilahun, M., & Mekbib, T.-A. (2000) · PubMed · Cited by 24 · see citing works
National newborn screening program — Still a hype or a hope now?
Kapoor, S., Gupta, N., & Kabra, M. (2013) · Indian Pediatrics · doi:10.1007/s13312-013-0187-9 · Cited by 23 · see citing works
Newborn Screening Services in Bahrain between 1985 and 2010
Arrayed, S. A., & Hajeri, A. A. (2012) · Advances in Hematology · doi:10.1155/2012/903219 · Cited by 23 · see citing works
Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward
Hettiarachchi, M., & Amarasena, S. (2014) · BMC Health Services Research · doi:10.1186/1472-6963-14-385 · Cited by 23 · see citing works
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota
Sarafoglou, K., Bentler, K., Gaviglio, A., et al. (2009) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-009-1135-7 · Cited by 22 · see citing works
Evaluation of current guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis.
Shamshiri, A. R., Yarahmadi, S., Forouzanfar, M. H., Haghdoost, A. A., Hamzehloo, G., & Naieni, K. H. (2012) · PubMed · Cited by 21 · see citing works
Cost-benefit analysis of G6PD screening in Lebanese newborn males.
Khneisser, I., Adib, S. M., Loiselet, J., et al. (2007) · PubMed · Cited by 21 · see citing works
Acquiring genome‐wide gene expression profiles in Guthrie card blood spots using microarrays
Khoo, S. K., Dykema, K. J., Vadlapatla, N. M., Lahaie, D., Valle, S., Satterthwaite, D., Ramirez, S. A., Carruthers, J. A., Haak, P. T., & Resau, J. H. (2010) · Pathology International · doi:10.1111/j.1440-1827.2010.02611.x · Cited by 20 · see citing works
From Newborn Screening to Population Health Research: Implementation of the Michigan BioTrust for Health
Langbo, C., Bach, J. V., Kleyn, M. J., et al. (2013) · Public Health Reports · doi:10.1177/003335491312800508 · Cited by 18 · see citing works
Implementation of written consent for newborn screening in V ictoria, A ustralia
Charles, T., Pitt, J. J., Halliday, J. L., et al. (2013) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.12484 · Cited by 18 · see citing works
Training programmes for developing countries
Solanki, K. K. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0680-1 · Cited by 18 · see citing works
Funding Decisions for Newborn Screening: A Comparative Review of 22 Decision Processes in Europe
Blankart, K. E., & Rogowski, W. H. (2014) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph110505403 · Cited by 18 · see citing works
Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening
Rigter, T., Weinreich, S. S., van El, C. G., et al. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.09.017 · Cited by 18 · see citing works
Fragile X protein in newborn dried blood spots
Adayev, T., LaFauci, G., Dobkin, C., et al. (2014) · BMC Medical Genetics · doi:10.1186/s12881-014-0119-0 · Cited by 18 · see citing works
A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopaenia
Olbrich, P., de Felipe, B., Delgado‐Pecellín, C., et al. (2014) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2014.08.003 · Cited by 18 · see citing works
Newborn Dried Blood Spot Screening: Residual Specimen Storage Issues
Therrell, B. L., & Hannon, W. H. (2012) · PEDIATRICS · doi:10.1542/peds.2011-3416 · Cited by 17 · see citing works
Self-citation
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency
Auray‐Blais, C., Maranda, B., & Lavoie, P. (2014) · Clinica Chimica Acta · doi:10.1016/j.cca.2014.05.024 · Cited by 16 · see citing works
Governing biological material at the intersection of care and research: the use of dried blood spots for biobanking
Douglas, C. M. W., van El, C. G., Faulkner, A., & Cornel, M. C. (2012) · Croatian Medical Journal · doi:10.3325/cmj.2012.53.390 · Cited by 16 · see citing works
Present status and future concerns of expanded newborn screening in malaysia: sustainability, challenges and perspectives.
Leong, Y., Gan, C., Tan, M. A. F., et al. (2014) · PubMed · Cited by 15 · see citing works
Newborn Screening Systems: The Complete Perspective
Durieux-Smith, A. (2011) · International Journal of Audiology · doi:10.3109/14992027.2011.562552 · Cited by 15 · see citing works
Cost-effectiveness analysis of different rescue therapies in patients with lamivudine-resistant chronic hepatitis B in China
Wu, B. Y., Shen, J., & Cheng, H. (2012) · BMC Health Services Research · doi:10.1186/1472-6963-12-385 · Cited by 15 · see citing works
International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes
Khneisser, I., Adib, S. M., Mégarbané, A., et al. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-1008-5 · Cited by 15 · see citing works
Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test
Reyes, E. C. G., Frómeta, A., del Río, L., et al. (2009) · Clinica Chimica Acta · doi:10.1016/j.cca.2008.12.039 · Cited by 15 · see citing works
Neonatal Screening for Congenital Hypothyroidism: A Retrospective Hospital Based Study from Bahrain
Golbahar, J., Alkhayyat, H., Hassan, B., Agab, W., Hassan, E., & Darwish, A. H. (2010) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2010.23.1-2.39 · Cited by 15 · see citing works
U.S. international efforts on critical congenital heart disease screening: Can we have a uniform recommendation for Europe?
Hom, L. A., & Martin, G. R. (2014) · Early Human Development · doi:10.1016/s0378-3782(14)50004-7 · Cited by 14 · see citing works
Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years’ experience
Tahirović, H. F., & Toromanović, A. (2008) · European Journal of Pediatrics · doi:10.1007/s00431-008-0801-3 · Cited by 14 · see citing works
An enzyme immunoassay for determining 17α-hydroxyprogesterone in dried blood spots on filter paper using an ultramicroanalytical system
Reyes, E. C. G., González, N. M., Pérez, P. L., Frómeta, A., Rodríguez, O. Z., Vallejera, D. H., Martínez, L., & Martínez, E. M. C. (2008) · Clinica Chimica Acta · doi:10.1016/j.cca.2008.04.004 · Cited by 14 · see citing works
Evolution and Innovations of the National Neonatal and High Risk Screening Program in Costa Rica
de Céspedes, C., Saborío, M., Trejos, R., et al. (2014) · Revista de Biología Tropical · doi:10.15517/rbt.v1i2.15278 · Cited by 14 · see citing works
Cost Effectiveness of Establishing a Neonatal Screening Programme for Phenylketonuria in Libya
Sladkevicius, E., Pollitt, R. J., Mgadmi, A., & Guest, J. F. (2010) · Applied Health Economics and Health Policy · doi:10.2165/11535530-000000000-00000 · Cited by 14 · see citing works
Cost-utility analysis of neonatal screening program, shiraz university of medical sciences, shiraz, iran, 2010.
Hatam, N., Shirvani, S., Javanbakht, M., Askarian, M., & Rastegar, M. (2013) · Europe PMC (PubMed Central) · Cited by 14 · see citing works
Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening.
Kitagawa, T. (2012) · PubMed · Cited by 13 · see citing works
Tackling rare diseases at European level: why do we need a harmonized framework?
Taruscio, D., Trama, A., & Stefanov, R. S. (2007) · PubMed · Cited by 13 · see citing works
Avaliação do valor de corte de TSH em amostras de filtro na triagem neonatal para diagnóstico de hipotireoidismo congênito no Programa "Primeiros Passos" - IEDE/RJ
Barone, B., Lopes, C. L. D. S., Tyszler, L. S., et al. (2013) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302013000100008 · Cited by 13 · see citing works
Ontario newborns now screened for SCID
Cross, C. (2013) · Canadian Medical Association Journal · doi:10.1503/cmaj.109-4580 · Cited by 12 · see citing works
Development, Validation and Application of Tandem Mass Spectrometry for Screening of Inborn Metabolic Disorders in Kuwaiti Infants
Abdel‐Hamid, M. E., Tisócki, K., Sharaf, L., et al. (2007) · Medical Principles and Practice · doi:10.1159/000100393 · Cited by 12 · see citing works
The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening
Haynes, C. A., & Jesús, V. R. D. (2014) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2014.10.001 · Cited by 11 · see citing works
Europe plays catch-up on neonatal screening as US skips ahead
Holmes, D. (2012) · Nature Medicine · doi:10.1038/nm1112-1596 · Cited by 11 · see citing works
Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children
Therrell, B. L., & Wu, C. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.121 · Cited by 11 · see citing works
Self-citation
Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment
Morales, A., Wierenga, A. M., Cuthbert, C. D., Sacharow, S., Jayakar, P., Velazquez, D. L., Loring, J., & Barbouth, D. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e318193076f · Cited by 10 · see citing works
Review Article on Congenital Hypothyroidism and Newborn Screening Program in Africa; the Present Situation and the Way Forward
Adeniran, K. (2012) · Journal of Thyroid Disorders & Therapy · doi:10.4172/2167-7948.1000102 · Cited by 10 · see citing works
An international training and support programme for the establishment of neonatal screening in developing countries
Fukushi, M. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0634-7 · Cited by 9 · see citing works
Thyroid Profile of Term Appropriate for Gestational Age Neonates in Nigeria: A Forerunner to Screening for Congenital Hypothyroidism
Adeniran, K., Okolo, A. A., & Onyiriuka, A. N. (2010) · Journal of Tropical Pediatrics · doi:10.1093/tropej/fmp143 · Cited by 9 · see citing works
Overview of diagnosis, management and outcome of congenital hypothyroidism: A call for a national screening programme in Sudan.
Babiker, A. M. I., Jurayyan, N. A. M. A., Mohamed, S. H., et al. (2012) · PubMed · Cited by 9 · see citing works
Epidemiologic view of phenylketonuria (PKU) in Latinamerica
Borrajo, G. J. C. (2014) · DOAJ (DOAJ: Directory of Open Access Journals) · doi:10.18233/apm33no6pp279-287 · Cited by 8 · see citing works
Self-citation
Newborn bloodspot screening: setting the Australian national policy agenda
Maxwell, S. J., & O'Leary, P. C. (2014) · The Medical Journal of Australia · doi:10.5694/mja13.10974 · Cited by 8 · see citing works
Newborn screening in the Middle East and North Africa – challenges and recommendations
Shawky, R. M. (2012) · Hamdan Medical Journal · doi:10.7707/hmj.v5i3.192 · Cited by 8 · see citing works
Commentary. Common criteria among States for storage and use of dried blood spot specimens after newborn screening
Petrini, C., Olivieri, A., Corbetta, C., et al. (2012) · Annali dell Istituto Superiore di Sanità · doi:10.4415/ann_12_02_03 · Cited by 8 · see citing works
Panorama epidemiológico de la fenilcetonuria (PKU) en Latinoamérica
Borrajo, G. J. (2012) · Redalyc (Universidad Autónoma del Estado de México) · Cited by 8 · see citing works
Self-citation
Application of Mass Spectrometry in Newborn Screening: About Both Small Molecular Diseases and Lysosomal Storage Diseases
Hwu, W., Chien, Y., Lee, N., Wang, S.-F., Chiang, S.-C., & Hsu, L.-W. (2012) · Topics in current chemistry · doi:10.1007/128_2012_354 · Cited by 7 · see citing works
Programa de pesquisa neonatal de hipotiroidismo congénito de la provincia de Buenos Aires: 1.377.455 niños evaluados en diez años de experiencia
González, V. G., Santucci, Z., Pattín, J., et al. (2009) · Revista chilena de pediatría · doi:10.4067/s0370-41062009000100012 · Cited by 7 · see citing works
O exitoso "teste do pezinho" faz dez anos no Brasil!
Lopes, M. E. M. (2011) · Ciência & Saúde Coletiva · doi:10.1590/s1413-81232011000700001 · Cited by 7 · see citing works
Enhancing Case Detection of Selected Inherited Disorders through Expanded Newborn Screening in the Philippines
Padilla, C. D., & Aguirre, T. B. (2013) · Acta Medica Philippina · doi:10.47895/amp.v47i1.1429 · Cited by 7 · see citing works
Self-citation
Newborn screening for classic galactosaemia and primary congenital hypothyroidism in the Nkangala district of Mpumalanga province, South Africa
Lebea, P. J., & Pretorius, P. J. (2008) · South African Journal of Child Health · doi:10.7196/sajch.36 · Cited by 6 · see citing works
Sistema Nacional de Pesquisa Neonatal en Uruguay
Queiruga, G., Queijo, C., Lemes, A., et al. (2011) · DOAJ (DOAJ: Directory of Open Access Journals) · Cited by 6 · see citing works
Expanded newborn mass screening with MS/MS and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in Japan
Yamaguchi, S., Jamiyan, P., Kobayashi, H., et al. (2013) · Cited by 6 · see citing works
Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper
Vallejera, D. H., Monaga, M., Campos, D., et al. (2013) · Journal of Neonatal-Perinatal Medicine · doi:10.3233/npm-1364312 · Cited by 5 · see citing works
Newborn screening systems : the complete perspective
Driscoll, C., & McPherson, B. (2010) · Cited by 5 · see citing works
Quantitative ultramicrotest for newborn screening of galactosemia in Cuba
Frómeta, A., Reyes, E. C. G., Martínez, E. M. C., et al. (2010) · Journal of Perinatal Medicine · doi:10.1515/jpm.2010.135 · Cited by 4 · see citing works
Dried Blood Spot Quality Control Materials for Newborn Screening to Detect Lysosomal Storage Disorders
Jesús, V. R. D., Zhou, H., & Vogt, R. F. (2013) · Clinical Chemistry · doi:10.1373/clinchem.2013.209940 · Cited by 4 · see citing works
Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots
Campos, D., Monaga, M., Reyes, E. C. G., et al. (2014) · Clinica Chimica Acta · doi:10.1016/j.cca.2013.12.035 · Cited by 4 · see citing works
Diagnosed congenital hypothyroidism with missing follow-up: Is it time for a national registry?
Al-Alwan, I. A., AlRowaeah, A., & Bawazeer, M. S. (2012) · Annals of Saudi Medicine · doi:10.5144/0256-4947.2012.26.5.1137 · Cited by 3 · see citing works
. Screening Newborns in the Asia-Pacific Region
Padilla, C. D., & Therrell, B. L. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780195374759.003.0061 · Cited by 3 · see citing works
Self-citation
Irish public would prefer legislation to protect Guthrie card archive rather than destroy it
Allen, J., McCarthy, P., Dempsey, E. M., et al. (2013) · BMJ · doi:10.1136/bmj.f5232 · Cited by 2 · see citing works
Déficit de acetil CoA deshidrogenasa de cadena media detectado por pesquisa neonatal en Uruguay
Queijo, C., Lemes, A., Machado, M. L. B., et al. (2011) · Acta bioquímica clínica latinoamericana/Acta bioquímica clínica latinoamericana · Cited by 1 · see citing works

Flagged first, then by citations

Sorted by citations

Sickle cell disease
Kato, G. J., Piel, F. B., Reid, C. D., Gaston, M. H., Ohene-Frempong, K., Krishnamurti, L., Smith, W. R., Panepinto, J. A., Weatherall, D. J., Costa, F. F., et al. (2018) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2018.10 · Cited by 1,501 · see citing works
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Maple syrup urine disease: mechanisms and management
Blackburn, P., Gass, J., Pinto e Vairo, F., Farnham, K., Atwal, H., Macklin, S., Klee, E., & Atwal, P. (2017) · The Application of Clinical Genetics · doi:10.2147/tacg.s125962 · Cited by 280 · see citing works
Concentration Determination of >200 Proteins in Dried Blood Spots for Biomarker Discovery and Validation
Eshghi, A., Pistawka, A. J., Liu, J., Chen, M., Sinclair, N. J. T., Hardie, D. B., Elliott, M., Chen, L., Newman, R., Mohammed, Y., et al. (2020) · Molecular & Cellular Proteomics · doi:10.1074/mcp.tir119.001820 · Cited by 51 · see citing works
Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia
Grecsó, N., Zádori, A., Szécsi, I., Baráth, Á., Galla, Z., Bereczki, C., & Monostori, P. (2020) · PLoS ONE · doi:10.1371/journal.pone.0233724 · Cited by 26 · see citing works
Risk factors for hospitalization of children with congenital adrenal hyperplasia
Yang, M., & White, P. C. (2017) · Clinical Endocrinology · doi:10.1111/cen.13309 · Cited by 7 · see citing works

E-Commerce Activity, Opportunities, and Strategies in Latin America
Gouvea, R., Gregorio, D. D., & Kasicieh, S. K. (2005) · IGI Global eBooks · doi:10.4018/978-1-59140-354-8.ch006
Business opportunities and challenges for the U.S. in Latin America
Monge‐Naranjo, A. (2014) · RePEc: Research Papers in Economics
Latin America in the rearview mirror
Cole, H. L., Ohanian, L. E., Riascos, A. J., et al. (2004) · Journal of Monetary Economics · doi:10.1016/j.jmoneco.2004.09.002 · Cited by 139 · see citing works
The Prevalence and Distribution of Serials Union Listing Records in OCLC's WorldCat
Ashman, A. B. (2005) · Technical Services Quarterly · doi:10.1300/j124v22n04_04 · Cited by 3 · see citing works
Research in Latin America and the Caribbean on International Relations and Foreign Policy: Some Impressions
Lowenthal, A. F. (1983) · Latin American Research Review · doi:10.1017/s0023879100034105 · Cited by 5 · see citing works

Authors: Therrell, B. L., Padilla, C. D., Loeber, J. G., Kneisser, I., Saadallah, A., Borrajo, G. J. C., & Adams, J.
Affiliations: The University of Texas at San Antonio Health Science Center (US)
University of the Philippines Manila (PH)
Saint Joseph University (LB)
King Faisal Specialist Hospital & Research Centre (SA)
Canadian Organization for Rare Disorders (CA)
Corresponding author: Therrell, Bradford L.
ORCID: Therrell, Bradford L.
Padilla, Carmencita David
Loeber, J. Gerard
Borrajo, Gustavo J.C.
Venue: Seminars in Perinatology
Publisher: Elsevier BV
Published: 2015-04
Volume: 39
Issue: 3
Pages: 171-187
ISSN: 0146-0005 (ISSN-L)
DOI: 10.1053/j.semperi.2015.03.002
OpenAlex: W1493277429
Cited by: 602
References: 165
Citations by year: 2026: 27 · 2025: 52 · 2024: 74 · 2023: 76 · 2022: 74 · 2021: 73 · 2020: 54 · 2019: 55 · 2018: 41 · 2017: 39 · 2016: 26 · 2015: 11
FWCI: 3.81
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Seminars in Perinatology (publishedVersion)
PubMed (publishedVersion)
Rivm Repository (Netherlands National Institute for Public Health and the Environment) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: newborn screening, inborn errors of metabolism
MeSH terms: Cooperative Behavior, Genetic Counseling, Health Policy, Health Services Accessibility, Humans, Infant, Newborn, Pilot Projects, Public Health, Global Health, Neonatal Screening, Guidelines as Topic, Parental Consent

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Current status of newborn screening worldwide: 2015

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks