Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry

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Items 101–200 of 211

1. Confirmation of congenital adrenal hyperplasia by adrenal steroid profiling of filter paper dried blood samples using ultra-performance liquid chromatography-tandem mass spectrometry
   Cláudia Rossi, Lisa J. Calton, Heather A. Brown, Scott Gillingwater, Andrew Michael Wallace, Francesca Petrucci, Domenico Ciavardelli, Andrea Urbani, Paolo Sacchetta, Michael R. Morris · 2011 · Clinical Chemistry and Laboratory Medicine (CCLM)
2. EDTA in Dried Blood Spots Leads to False Results in Neonatal Endocrinologic Screening
   Ute Holtkamp, Jeanette Klein, Johannes Sander, Michael Peter, Nils Janzen, Ulrike Steuerwald, Oliver Blankenstein · 2008 · Clinical Chemistry
3. Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia
   Pallavi Vats, Aashima Dabas, Vandana Jain, Anju Seth, Sangeeta Yadav, Madhulika Kabra, Neerja Gupta, Preeti Singh, Rajni Sharma, Ravindra Kumar et al. · 2020 · Indian Pediatrics
4. Liquid chromatography–mass spectrometric determination of losartan and its active metabolite on dried blood spots
   Ramisetti Nageswara Rao, S. Satyanarayana Raju, Rajavarapu Mastan Vali, G. Girija Sankar · 2012 · Journal of Chromatography B
5. Update: Newborn Screening for Endocrinopathies
   Kenneth A. Pass, Eurico Carmago Neto · 2009 · Endocrinology and Metabolism Clinics of North America
6. Russian clinical practice guidelines «congenital adrenal hyperplasia»
   Natalia G. Mokrysheva, Galina Afanas'evna Mel'nichenko, Leila V. Adamyan, Ekaterina Anatol'evna Troshina, Н В Молашенко, Сазонова Анна Игоревна, Elena V. Uvarova, Esayan R.M. Esayan, Elena Nikolaevna Andreeva, Ж. А. Ужегова et al. · 2021 · Obesity and metabolism
7. Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia
   Kyriakie Sarafoglou, John H. Himes, Jean M. Lacey, Brian C. Netzel, Ravinder Jit Singh, Dietrich Matern · 2010 · Hormone Research in Paediatrics
8. Corrected 17-alpha-hydroxyprogesterone values adjusted by a scoring system for screening congenital adrenal hyperplasia in premature infants.
   Ji Eun Lee, Yeonsook Moon, Moon Hee Lee, Yong Hoon Jun, Kyung Il Oh, Jong Weon Choi · 2008 · PubMed
9. Pilot proficiency testing study for second tier congenital adrenal hyperplasia newborn screening
   De Jesús, Víctor R., Simms, David A., Schiffer, Jarad, Kennedy, Meredith, Mei, Joanne V., Hannon, W. Harry · 2010 · Clinica Chimica Acta
10. Steroid Screening Tools Differentiating Nonclassical Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome
    Giovana De Nardo Maffazioli, Tânia A.S.S. Bachega, Sylvia Asaka Yamashita Hayashida, Larissa Garcia Gomes, Helena Panteliou Lima Valassi, José Antônio Miguel Marcondes, Berenice Bilharinho Mendonca, Edmund Chada Baracat, Gustavo Arantes Rosa Maciel · 2020 · The Journal of Clinical Endocrinology & Metabolism
11. 21-Deoxycortisol is a Key Screening Marker for 21-Hydroxylase Deficiency
    Patrice K. Held, Eric R. Bialk, Michael R. Lasarev, David B. Allen · 2021 · The Journal of Pediatrics
12. Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines
    Christopher N. Greene, Suzanne Kehoe Cordovado, Daniel P. Turner, Lisa Mari Keong, Dorothy I. Shulman, Patricia W. Mueller · 2014 · Molecular Genetics and Metabolism Reports
13. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) based assay for the simultaneous quantification of 18-hydroxycorticosterone, 18-hydroxycortisol and 18-oxocortisol in human plasma
    Fangjun Chen, Ziyun Cheng, Zhenxin Wang, Yingfei Peng, Beili Wang, Wei Guo, Baishen Pan · 2021 · Journal of Chromatography B
14. Analysis of Corticosteroids
    Robert Fraser, D.B. Gower, John William Honour, Mary C. Ingram, Andrew T. Kicman, Hugh L.J. Makin, Paul M. Stewart · 2010 · Springer eBooks
15. Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China
    Xia Zhan, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Jun Guo, Siyu Chang, Yu Wang, Huiwen Zhang · 2022 · Steroids
16. Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?
    Joyce Y. Wu, Sudeep, David M. Cowley, Mark Anglin Harris, Ivan N. McGown, Andrew M. Cotterill · 2011 · The Medical Journal of Australia
17. Role of Mass Spectrometry in Clinical Endocrinology
    Siva S. Ketha, Ravinder Jit Singh, Hemamalini Ketha · 2017 · Endocrinology and Metabolism Clinics of North America
18. Implementing steroid profiling by liquid chromatography‐tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand
    Mark R. de Hora, Natasha L. Heather, Tejal Patel, Lauren G. Bresnahan, DIANNE R. WEBSTER, Paul Leslie Hofman · 2021 · Clinical Endocrinology
19. Cross reactions elicited by serum 17-OH progesterone and 11-desoxycortisol in cortisol assays
    Julie Brossaud, Pascal Barat, Dominique Gualde, Jean‐Benoît Corcuff · 2009 · Clinica Chimica Acta
20. Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand
    Mark R. de Hora, Natasha L. Heather, DIANNE R. WEBSTER, Benjamin B. Albert, Paul Leslie Hofman · 2022 · International Journal of Neonatal Screening
21. Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
    Wieacker, Isabelle, Peter, Michael, Borucki, Katrin, Empting, Susann, Roehl, Friedrich-Wilhelm, Mohnike, Klaus · 2015 · Journal of Pediatric Endocrinology and Metabolism
22. Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess
    Jennifer L. Ng, Ee Mun Lim, Rui Zhang, John P. Beilby, Gerald Francis Watts, Suzanne J. Brown, Bronwyn G. A. Stuckey · 2023 · The Journal of Clinical Endocrinology & Metabolism
23. The Adrenal Cortex and Its Disorders
    Walter L. Miller, Christa E. Flück, David T. Breault, Brian J. Feldman · 2021 · Elsevier eBooks
24. Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 4. Characterization, using GC–MS and GC–MS/MS, of 11oxo-pregnanes and 11oxo-pregnenes
    Sofia Christakoudi, David Cowan, Norman Taylor · 2013 · Steroids
25. Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites
    Koyama, Yuhei, Homma, Keiko, Fukami, Maki, Miwa, Masayuki, Ikeda, Kazushige, Ogata, Tsutomu, Murata, Mitsuru, Hasegawa, Tomonobu · 2016 · Clinical Pediatric Endocrinology
26. The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency
    Kazuhiro Watanabe, Atsumi Tsuji‐Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa et al. · 2022 · The Journal of Clinical Endocrinology & Metabolism
27. Mass Spectrometry-Based Steroid Profiling: Meeting Unmet Clinical Needs
    Man Ho Choi · 2021 · The Tohoku Journal of Experimental Medicine
28. Adrenal steroids reference ranges in infancy determined by LC-MS/MS
    Enver, Ece Oge, Vatansever, Pinar, Guran, Omer, Bilgin, Leyla, Boran, Perran, Turan, Serap, Haklar, Goncagul, Bereket, Abdullah, Guran, Tulay · 2022 · Pediatric Research
29. A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair
    Helena Agnani, Guillaume Bachelot, Thibaut Eguether, Bettina Ribault, Jean Fiet, Yves Le Bouc, Irène Netchine, Muriel Houang, Antonin Lamazière · 2022 · The Journal of Steroid Biochemistry and Molecular Biology
30. Tandem Mass Spectrometry in Hormone Measurement
    Helen P. Field · 2013 · Methods in molecular biology
31. Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
    Zhuoguang Li, Yan Liang, Caiqi Du, Yu Xiao, Ling Hou, Wei Wu, Yanqing Ying, Xiaoping Luo · 2021 · BMC Endocrine Disorders
32. LC-MS/MS improves screening towards 21-hydroxylase deficiency
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33. Semi-automated serum steroid profiling with tandem mass spectrometry
    Rakete, Sophie, Schubert, Tom, Vogeser, Michael · 2023 · Journal of Mass Spectrometry and Advances in the Clinical Lab
34. The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: improvements and future perspectives
    Mark R. de Hora, Natasha L. Heather, DIANNE R. WEBSTER, Benjamin B. Albert, Paul Leslie Hofman · 2023 · Frontiers in Endocrinology
35. Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report
    Ilaria Cicalini, Stefano Tumini, Paola Guidone, Damiana Pieragostino, Mirco Zucchelli, Sara Franchi, Gabriele Lisi, Pierluigi Lelli Chiesa, Liborio Stuppia, Vincenzo De Laurenzi et al. · 2019 · Metabolites
36. Functional glucocorticoid receptor gene variants do not underlie the high variability of 17-hydroxyprogesterone screening values in healthy newborns
    Felix Schreiner, Magdalini Tozakidou, Rita Maslak, Ute Holtkamp, Michael Peter, Bettina C. Gohlke, Joachim Woelfle · 2009 · European Journal of Endocrinology
37. Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia
    Marvin L. Mitchell, Ho-Wen Hsu, Inderneel Sahai · 2013 · Current Opinion in Endocrinology Diabetes and Obesity
38. Birth Weight– or Gestational Age–adjusted Second-tier LCMSMS Cutoffs Improve Newborn Screening for CAH in New Zealand
    Mark R. de Hora, Natasha L. Heather, DIANNE R. WEBSTER, Benjamin B. Albert, Paul Leslie Hofman · 2021 · The Journal of Clinical Endocrinology & Metabolism
39. International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia
    Tracey A. Conlon, Colin P. Hawkes, Jennifer J. Brady, J. Gerard Loeber, Nuala Murphy · 2023 · Hormone Research in Paediatrics
40. Measuring steroids from dried blood spots using tandem mass spectrometry to diagnose congenital adrenal hyperplasia
    Deema O. Qasrawi, Jessica M. Boyd, S.M. Hossein Sadrzadeh · 2021 · Clinica Chimica Acta
41. Tandem mass spectrometric determination of purine metabolites and adenosine deaminase activity for newborn screening of ADA–SCID
    Osama Y. Al-Dirbashi, Svetlana Ogrel, Nathan McIntosh, Lauren Higgins, Christine McRoberts, Larry Fisher, Dennis E. Bulman, Michael T. Geraghty, Pranesh K. Chakraborty · 2015 · LymphoSign Journal
42. Le dépistage néonatal de l’hyperplasie congénitale des glandes surrénales
    Dulanjalee Kariyawasam, Thao Nguyen‐Khoa, Laura González Briceño, Michel Polak · 2021 · médecine/sciences
43. Reassessment of predictive values of ACTH‐stimulated serum 21‐deoxycortisol and 17‐hydroxyprogesterone to identify CYP21A2 heterozygote carriers and nonclassic subjects
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44. The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience
    Simone Martins de Castro, Paloma Wiest, Poli Mara Spritzer, Cristiane Kopacek · 2023 · Endocrine Connections
45. Utility of a commercially available blood steroid profile in endocrine practice
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46. What’s New in Newborn Screening?
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47. The adrenal cortex
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48. Elevation of corticosterone and 17OH progesterone in extremely preterm infants and clinical implications
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49. Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening
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50. Simultaneous quantitation of 17 endogenous adrenal corticosteroid hormones in human plasma by UHPLC-MS/MS and their application in congenital adrenal hyperplasia screening
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51. Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns
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52. Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns
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53. Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia
    Tomas Brutvan, Otakar Pšenička, Jarmila Křížová, Marcela Kotasová, Jana Ježková · 2024 · American Journal of Case Reports
54. A novel freeze‐dried storage and preparation method for the determination of mycophenolic acid in plasma by high‐performance liquid chromatography
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55. Novel Isotope Dilution High-Performance Liquid Chromatography Quadrupole–Linear Ion Trap Tandem Mass Spectrometry Method for the Determination of Five Steroid Hormones in Human Serum
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56. Considerations in Development and Validation of LC‐MS/MS Method for Quantitative Analysis of Small Molecules in Dried Blood Spot Samples
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57. Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test
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58. Fertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review
    Zuzanna Roszkowska, Małgorzata Bobrowicz, Joanna Betlejewska, Joanna Hubska, Beata Rak, Urszula Ambroziak · 2025 · Frontiers in Endocrinology
59. Adrenocortical Function in Preterm Infants
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60. A pilot study on alternative blood sampling methods in pigs
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61. Interpretation of screening for congenital adrenal hyperplasia in preterm infants
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63. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
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64. Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort
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65. Efficacy of Liquid-chromatography and Radioimmunoassay in False-positives’ Drop-off in CAH Newborn Screening
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66. Entwicklung der Analytik im Neugeborenen-Screening – Von der Guthrie-Karte zur Genetik
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67. A recent overview of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: pathophysiology, recognition, and management
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68. A Cross-Sectional Study on Comparison of Serum Cortisol Concentration Measured by Chemiluminescent Immunoassay in Four Different Automated Analyzers in a Variety of Adrenal Disorders
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70. The comparative assessment of the effectiveness of immunoanalysis and tandem mass spectrometry applied for re-testing the children with suspected congenital adrenal cortical hyperplasia
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71. Dried Blood Spot Multiplexed Steroid Profiling Using Liquid Chromatography Tandem Mass Spectrometry in Korean Neonates
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74. Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement
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76. Clinical practice guidelines "Congenital adrenal hyperplasia in children" with comments
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77. Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life
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82. Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot
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99. Neonatal Screening for Congenital Adrenal Hyperplasia
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100. Disorders of the Adrenal Cortex in the Fetus and Neonate
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