The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
Open accessAbstract
Four patients with a new, inherited, complex developmental deficiency syndrome were studied. The syndrome affects the central and peripheral nervous system, and also the retina, liver, bone, adipose tissue, and genital organs. Abnormalities of glycoproteins, glycopeptide hormones, and lipids have been found in serum from these patients, the most pronounced being increased cathodal forms of transferrin. Isoforms of serum transferrin were therefore analysed qualitatively and quantitatively by isoelectric focusing and isocratic anion exchange chromatography, and the carbohydrate composition was determined in transferrin isolated by immune affinity chromatography. All the patients had about tenfold raised serum concentrations of isotransferrins with higher isoelectric points than normal. Similar findings, though less pronounced, were made in all the fathers and in one of the mothers. Half the transferrin in the patients was constantly present in two principal abnormal cathodal forms in approximately equal amounts. Carbohydrate determinations in purified transferrin showed quantitatively similar deficiencies of sialic acid, galactose, and N-acetylglucosamine, the mannose content being normal. The results suggest that either two or all of the normally four terminal trisaccharides in transferrin may be missing. A defect in the synthesis or catabolism, or both, of this trisaccharide, which is common to many secretory glyco-conjugates, is likely. Apart from providing a quantitative diagnostic method, the present findings may serve as a basis for further studies of the metabolic deficiency in this syndrome.
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Citations
Cites
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Quantitative estimation of abnormal microheterogeneity of serum transferrin in alcoholics
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Self-citationCarbohydrate Composition of Serum Transferrin in Alcoholic Patients
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Self-citationChanges in Carbohydrate‐Deficient Transferrin Levels after Alcohol Withdrawal
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Transferrin Phenotype and Level of Carbohydrate‐deficient Transferrin in Healthy Individuals
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Self-citationDirect immunofixation after isoelectric focusing
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AN APPARENT HOMOZYGOUS X-LINKED DISORDER WITH CARBOHYDRATE-DEFICIENT SERUM GLYCOPROTEINS
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Cited by
Sorted by citations
Varki, A. (2017) · Glycobiology · doi:10.1093/glycob/cww086 · Cited by 2,635
Stibler, H. (1991) · Clinical Chemistry · doi:10.1093/clinchem/37.12.2029 · Cited by 632
Self-citationMarquardt, T., & Denecke, J. (2003) · European Journal of Pediatrics · doi:10.1007/s00431-002-1136-0 · Cited by 287
Development and developmental disorders of the human cerebellum
ten Donkelaar, H. J., Lammens, M. M. Y., Wesseling, P., Thijssen, H. O. M., & Renier, W. O. (2003) · Journal of Neurology · doi:10.1007/s00415-003-0199-9 · Cited by 269
Congenital disorders of glycosylation
Chang, I. J., He, M., & Lam, C. T. (2018) · Annals of Translational Medicine · doi:10.21037/atm.2018.10.45 · Cited by 244
Metadata
- Authors
- Stibler, H., & Jaeken, J.
- Affiliations
- Karolinska University Hospital (SE)
- Venue
- Archives of Disease in Childhood
- Publisher
- BMJ
- Published
- 1990-01-01
- Volume
- 65
- Issue
- 1
- Pages
- 107-111
- ISSN
- 0003-9888 (ISSN-L)
- 1468-2044
- PMC
- PMC1792388
- OpenAlex
- W2028736792
- Cited by
- 151
- References
- 28
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 1 · 2021: 1 · 2020: 3 · 2018: 4 · 2017: 2 · 2016: 2 · 2015: 2 · 2014: 4 · 2013: 2 · 2012: 2
- FWCI
- 4.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Archives of Disease in Childhood (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Glycosylation and Glycoproteins Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- transferrin glycosylation, sialic acid deficiency, galactose deficiency, inborn errors of metabolism, isoelectric focusing, anion exchange chromatography
- MeSH terms
- Carbohydrate Metabolism, Inborn Errors, Child, Child, Preschool, Female, Growth Disorders, Humans, Isoelectric Focusing, Nervous System Diseases, Syndrome, Transferrin, Biomarkers
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