The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
Abstract
Identical twin-sisters with evidence of a demyelinating disease showed multiple serum glycoprotein abnormalities. The association of a low serum iron level and a normal blood haemoglobin suggested an abnormality of transferrin too. This was confirmed by finding a sialic acid-deficiency of this glycoprotein in serum as well as in cerebrospinal fluid.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Citations
Cites
Jaeken, J., Vanderschueren‐Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E., & Eeckels, R. (1980) · Pediatric Research · doi:10.1203/00006450-198002000-00117 · Cited by 287
Self-citationThe microheterogeneity of human transferrins in biological fluids
van Eijk, H. G., van Noort, W. L., Dubelaar, M., & Heul, C. V. D. (1983) · Clinica Chimica Acta · doi:10.1016/0009-8981(83)90244-9 · Cited by 80
Bezkorovainy, A. (1981) · Springer eBooks · doi:10.1007/978-1-4684-3779-9 · Cited by 72
Hepatic recognition and catabolism of serum glycoproteins.
Ashwell, G., & Steer, C. J. (1981) · PubMed · Cited by 66
Chemistry and Metabolism of the Transferrins
Bezkorovainy, A. (1980) · Springer eBooks · doi:10.1007/978-1-4684-3779-9_4 · Cited by 13
Hepatic recognition and catabolism of serum glycoproteins
Ashwell, G. (1981) · JAMA · doi:10.1001/jama.246.20.2358 · Cited by 12
Iron uptake from sialo transferrins by rat reticulocytes
Dekker, C. J., Kroos, M. J., Heul, C. V. D., & van Eijk, H. G. (1984) · International Journal of Biochemistry · doi:10.1016/0020-711x(84)90190-3 · Cited by 5
Research works printed but not linked: 1
- Heath, 1981, The biosynthesis and turnover of glycoproteins, Vol. 3
Cited by
Sorted by citations
Items 201–284 of 284
Procedures for MS analysis of clinically relevant compounds
Niwa, T. (1995) · Clinica Chimica Acta · doi:10.1016/s0009-8981(00)89105-6 · Cited by 6
Congenital Disorders of Glycosylation
Jaeken, J. (2011) · Springer eBooks · doi:10.1007/978-3-642-15720-2_42 · Cited by 6
Self-citationCauses of Mortality in the Congenital Disorders of Glycosylation
Alharbi, H., Horikoshi, S., Jenkins, S. M., Scaglia, F., Lam, C. T., Morava, É., Larson, A. A., & Edmondson, A. C. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2025.109052 · Cited by 5
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
Okamoto, N., Kadoya, M., & Wada, Y. (2025) · JIMD Reports · doi:10.1002/jmd2.70011 · Cited by 5
Developmental and Inherited Liver Disease
Quaglia, A., Roberts, E. A., & Torbenson, M. S. (2023) · Elsevier eBooks · doi:10.1016/b978-0-7020-8228-3.00003-x · Cited by 5
Neonatal Trace Element Metabolism
Aggett, P. J. (1998) · Springer eBooks · doi:10.1007/978-1-4612-1642-1_41 · Cited by 5
Nsibu, N. C., Jaeken, J., Carchon, H. A., Mampunza, M., Sturiale, L., Garozzo, D., Mashako, M. N. L., & Tshibassu, M. (2008) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2007.07.012 · Cited by 5
Self-citationNeonatal Trace Element Metabolism
Aggett, P. J., & Barclay, S. M. (1991) · Springer eBooks · doi:10.1007/978-1-4684-0400-5_27 · Cited by 6
Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation
Raynor, A., Lebredonchel, E., Foulquier, F., Fenaille, F., & Bruneel, A. (2025) · Handbook of experimental pharmacology · doi:10.1007/164_2025_745 · Cited by 4
Bogdańska, A., Kozłowski, D., Pajdowska, M., Lipiński, P., & Tylki‐Szymańska, A. (2021) · Acta Biochimica Polonica · doi:10.18388/abp.2020_5576 · Cited by 4
Congenital Disorders of Glycosylation
Jaeken, J., & van den Heuvel, L. (2022) · Springer eBooks · doi:10.1007/978-3-030-67727-5_68 · Cited by 4
Self-citationAnomalies congénitales de la glycosylation (CDG)
Houdou, M., & Foulquier, F. (2020) · médecine/sciences · doi:10.1051/medsci/2020128 · Cited by 4
Congenital protein hypoglycosylation diseases
Sparks, S. E. (2012) · The Application of Clinical Genetics · doi:10.2147/tacg.s18673 · Cited by 4
Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism
Jaeken, J., & Morava, É. (2022) · Springer eBooks · doi:10.1007/978-3-662-63123-2_43 · Cited by 4
Self-citationResolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology
Driesen, K., Craemer, S. D., Morava, É., Cassiman, D. M., Witters, P., & Ghesquière, B. (2025) · ACS Omega · doi:10.1021/acsomega.5c07074 · Cited by 3
Calvo, P. L., Spada, M., Rabbone, I., Pinon, M., Porta, F., Cisarò, F., Reggiani, S., Cefalu, A. B., Sturiale, L., Garozzo, D., et al. (2017) · JIMD Reports · doi:10.1007/8904_2017_35 · Cited by 3
Self-citationMass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation
Wada, Y. (2025) · Mass Spectrometry · doi:10.5702/massspectrometry.a0169 · Cited by 3
Charuk, J. H. M., Tan, J., Bernardini, M., Haddad, S., Reithmeier, R. A. F., Jaeken, J., & Schachter, H. (1995) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1995.tb20623.x · Cited by 3
Self-citationLes syndromes d'hypoglycosylation
Jaeken, J., & Carchon, H. A. (1996) · Archives de Pédiatrie · doi:10.1016/0929-693x(96)86027-1 · Cited by 3
Self-citationGlycosylation: General Overview
Jaeken, J., & Carchon, H. A. (2009) · Elsevier eBooks · doi:10.1016/b978-008045046-9.01501-1 · Cited by 3
Self-citationCongenital Defects of Glycosylation: Disorders of N-Glycan Synthesis
Jaeken, J. (2000) · Springer eBooks · doi:10.1007/978-3-662-04285-4_38 · Cited by 3
Self-citationMultiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG
Zhang, H., Zhang, J., Ma, W., Ma, X., He, R., Ding, Y., Liu, Y.-P., Zhang, W., Dong, H., Zhang, Y., et al. (2025) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2025.109178 · Cited by 2
Zandberg, W. F., Gao, N., Jayakanthan, K., Lehrman, M. A., Seidah, N. G., & Pinto, B. M. (2012) · ChemBioChem · doi:10.1002/cbic.201100647 · Cited by 2
Blanita, D., Boiciuc, C., Turcan, D., Sacara, V., & Uşurelu, N. (2021) · The Moldovan Medical Journal · doi:10.52418/moldovan-med-j.64-4.21.09 · Cited by 2
Okamoto, N., Kadoya, M., & Wada, Y. (2025) · Journal of Human Genetics · doi:10.1038/s10038-025-01362-w · Cited by 2
Glycosylation defects corrected by the changes in GDPmannose level.
Kruszewska, J. S., Janik, A., Lenart, U., & Palamarczyk, G. (1999) · Acta Biochimica Polonica · doi:10.18388/abp.1999_4165 · Cited by 2
Thomas, J. A., Lam, C., & Berry, G. T. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-40139-5.00023-1 · Cited by 2
High CDT without clinical context: Beware of the variant
Lebredonchel, E., Raynor, A., Bruneel, A., Peoc’h, K., & Klein, A. (2023) · Clinica Chimica Acta · doi:10.1016/j.cca.2023.117333 · Cited by 2
Bhattacharya, K., Moore, F., & Christodoulou, J. (2015) · Springer eBooks · doi:10.1007/978-3-319-19207-9_11 · Cited by 2
Case 4 Olivopontocerebellar Atrophy in Carbohydrate-Deficient Glycoprotein Syndrome
Horoupian, D. S. (1995) · Pediatric Pathology & Laboratory Medicine · doi:10.3109/15513819509026951 · Cited by 2
Congenital Disorders of Glycosylation
Jaeken, J. (2006) · Springer eBooks · doi:10.1007/978-3-540-28785-8_41 · Cited by 1
Self-citationHepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation
Vilas, A., Briso‐Montiano, A., Segovia‐Falquina, C., Martín-Martínez, A., Soriano‐Sexto, A., Gallego, D., Ruiz-Montés, V., Gámez, A., & Pérez, B. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2024.108538 · Cited by 1
Glycoprofiling by DNA Sequencer-Aided Fluorophore-Assisted Carbohydrate Electrophoresis
Laroy, W., & Contreras, R. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-328-8_13 · Cited by 1
Фесенко, М. Є., Scherban, O. A., Kozakevіch, V. K., Ziuzina, L. S., & Kaliuzhka, O. O. (2023) · Актуальні проблеми сучасної медицини Вісник Української медичної стоматологічної академії · doi:10.31718/2077-1096.23.1.211 · Cited by 1
MGAT2‐CDG (CDG‐IIa) and dysmorphism
Jaeken, J. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35314 · Cited by 1
Self-citationVidailhet, M. (1995) · Archives de Pédiatrie · doi:10.1016/0929-693x(96)81192-4 · Cited by 1
Nasal Discharge in a 50-Year-Old Woman
Chamberlain, W., White, M. D., Wians, F. H., & Willis, M. S. (2004) · Laboratory Medicine · doi:10.1309/hxkl-hhc0-kxmt-9xwy · Cited by 1
Congenital disorder of glycosylation, type Ia
Nyhan, W., Barshop, B., & Ozand, P. (2005) · CRC Press eBooks · doi:10.1201/b13565-122 · Cited by 1
Congenital Disorders of Glycosylation ( CDG ): Review
Witters, P., & Morava, É. (2016) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0026783 · Cited by 1
Genetic Diseases of Glycosylation
Akama, T. O., & Fukuda, M. N. (2000) · Carbohydrates in Chemistry and Biology · doi:10.1002/9783527618255.ch97
Disease‐Specific Cerebrospinal Fluid Investigations
Deisenhammer, F., Egg, R., Giovannoni, G., Hemmer, B., Petzold, A., Sellebjerg, F. T., Teunissen, C. E., & Tumani, H. (2011) · Wiley eBooks · doi:10.1002/9781444346268.ch13
Lübke, T. (2001) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-69
Pajares, V., & Isabel, A. (2009) · Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)
Lavieu, G., Frénoy, J., Codogno, P., & Botti, J. (2005) · Pediatric Research · doi:10.1203/01.pdr.0000169962.02462.c0
Intérêt de la recherche de β2-transferrine dans des prélèvements susceptibles de contenir du LCR
Bigot‐Corbel, E., Bailly, F., Loubersac, V., & Delaroche, O. (2002) · Immuno-analyse & Biologie Spécialisée · doi:10.1016/s0923-2532(02)01216-4
More than 40 years of glycobiology in Regensburg
Tanner, W., & Lehle, L. (2012) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2012.08.001
Dysmorphie und psychomotorische Retardierung
Struffert, T., Feldmann, E., Schofer, O., & Reith, W. (2004) · Der Radiologe · doi:10.1007/s00117-004-1147-0
Posttranslational Processing of Proteins
Aerts, J. M. F. G., & Schram, A. W. (1993) · Humana Press eBooks · doi:10.1007/978-1-59259-438-2_6
Progrediente Neurolipidosen im Säuglings- und Kindesalter
Hagberg, B. A. (1990) · Springer eBooks · doi:10.1007/978-3-642-93411-7_15
Connor, J. R., Cheepsunthorn, P., & Zhang, X. (2004) · CRC Press eBooks · doi:10.1201/9781420039740.ch23
Carbohydrate-deficient glycoprotein症候群の病態生理
Tayama, M., 橋本, 俊., 宮崎, 雅., 和義, 村., & 泰弘, 黒. (1993) · 脳と発達 · doi:10.11251/ojjscn1969.25.537
Congenital disorder of glycosilation PMM2-CDG
Асхатовна, К. А., Шакирова, А. Р., Shaydullina, M. R., Cheminava, L. D., Ganieva, L. B., Badretdinova, A. N. B., & Saetov, S. S. (2019) · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · doi:10.21508/1027-4065-2019-64-5-220-225
Wrodzone zaburzenie deglikozylacji związane z deficytem N-glikanazy 1
Lipiński, P., & Tylki‐Szymańska, A. (2020) · Postępy Biochemii · doi:10.18388/pb.2020_306
Raynor, A., Raulet-Bussian, C., Verel, L., Plouviez, G., & Bruneel, A. (2021) · Clinica Chimica Acta · doi:10.1016/j.cca.2021.04.013
Bhattacharya, K., Moore, F., & Christodoulou, J. (2022) · Springer eBooks · doi:10.1007/978-3-030-84168-3_11
Congenital disorder of glycosylation, type la
Nyhan, W., Hoffmann, G. F., Barshop, B., & Al-Aqeel, A. (2011) · CRC Press eBooks · doi:10.1201/b13564-118
Congenital Disorder of Glycosylation (CDG) - Ih
Thiel, C. (2003) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-597
Diarrhoea, Hypoalbuminaemia, Hepatomegaly, Hypoglycaemia and Coagulopathy? Check for MPI-CDG!
Гусина, А. А., Криницкая, К. А., & Гусина, Н. Б. (2021) · Педиатрия Восточная Европа · doi:10.34883/pi.2021.9.1.011
Congenital disorders of N-linked glycosylation
Patterson, M. C. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813955-4.00064-7
Congenital Disorders of Glycosylation, Peroxisomal Disorders, and Smith-Lemli-Opitz Syndrome
Thomas, J. A., & Lam, C. T. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-82823-9.00031-3
Congenital Disorder of Glycosylation
Momtazmanesh, S., & Rezaei, N. (2023) · Springer eBooks · doi:10.1007/978-3-319-66816-1_1730-1
Additional file 3 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054321
Self-citationAdditional file 5 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054330
Self-citationAdditional file 2 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054318
Self-citationAdditional file 1 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054312
Self-citationAdditional file 4 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054324
Self-citationCongenital disorders of N-linked Glycosylation
Patterson, M. C. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19041-4.00009-1
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia
Luo, C., Peng, D., Li, Y., Liu, S., Wu, Q., Xu, X., & Wen, J. (2024) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2024.101162
Diagnostic biochimique des désordres congénitaux de la glycosylation
Raynor, A., Fenaille, F., Lebredonchel, E., Foulquier, F., & Bruneel, A. (2025) · EMC - Biologie Médicale · doi:10.1016/s2211-9698(25)48375-7
Schultz, M., Liedtke, K., Turgeon, C. T., Matern, D., & Hall, P. (2026) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2026.109910
Transferrin isoforms – a biochemical biomarker of proteinN-glycosylation disorders
Bogdańska, A. (2026) · Diagnostyka Laboratoryjna · doi:10.5604/01.3001.0055.6990
Analyses structurales et métaboliques de la sialylation des vertébrés
Vanbeselaere, J. (2013) · theses.fr (ABES) · doi:10.70675/f5ca88c1z90fdz4a02z94f0z2d244d6dbf4b
Potelle, S. (2017) · theses.fr (ABES) · doi:10.70675/cbd3e1e4z8f78z4776zb98bz7a91370d740d
Regulation of cellular Mn homeostasis : unexpected functions of TMEM165, SERCA and SPCA1
Houdou, M. (2020) · theses.fr (ABES) · doi:10.70675/3f8f8e86z4809z4fceza763z96ca8df1ea4b
DHRSX : revisiting dolichol synthesis
Althoff, C. R. (2024) · theses.fr (ABES) · doi:10.70675/a426cfcezaa0fz4329za637z5471552e4468
Evaluation of the Neonate with a Potential Metabolic Defect
Ozand, P. T. (1998) · Springer eBooks · doi:10.1007/978-1-4612-1642-1_53
Metadata
- Authors
- Jaeken, J., van Eijk, H. G., van der Heul, C., Corbeel, L., Eeckels, R., & Eggermont, E.
- Affiliations
- KU Leuven (BE)
- Corresponding author
- Jaeken, J.
- Venue
- Clinica Chimica Acta
- Publisher
- Elsevier BV
- Published
- 1984-12
- Volume
- 144
- Issue
- 2-3
- Pages
- 245-247
- ISSN
- 0009-8981 (ISSN-L)
- OpenAlex
- W1985413330
- Cited by
- 280
- References
- 7
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 10 · 2023: 8 · 2022: 7 · 2021: 14 · 2020: 13 · 2019: 8 · 2018: 6 · 2017: 6 · 2016: 9 · 2015: 1 · 2014: 4 · 2013: 4 · 2012: 8
- FWCI
- 0.61
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinica Chimica Acta (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Glycosylation and Glycoproteins Research
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Keywords
- sialic acid deficiency, transferrin, demyelinating disease, serum glycoproteins, cerebrospinal fluid, monozygotic twins, genetic syndromes
- MeSH terms
- Child, Child, Preschool, Demyelinating Diseases, Diseases in Twins, Female, Humans, Immunoelectrophoresis, Two-Dimensional, Pregnancy, Sialic Acids, Transferrin, Twins, Monozygotic, N-Acetylneuraminic Acid
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