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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.
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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
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