Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
- PMID: 6543331
- DOI: 10.1016/0009-8981(84)90059-7
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.
Similar articles
-
Changed transferrin sialylation in Parkinson's disease.Clin Chim Acta. 1995 Mar 31;235(2):159-67. doi: 10.1016/0009-8981(95)06025-6. Clin Chim Acta. 1995. PMID: 7554270
-
Cerebrospinal fluid sialic acid in tuberculous meningitis.Indian Pediatr. 1985 Mar;22(3):191-4. Indian Pediatr. 1985. PMID: 4030054 No abstract available.
-
Transferrin allelic variants may cause false positives in the detection of cerebrospinal fluid fistulae.Clin Chem. 1993 Jul;39(7):1444-5. Clin Chem. 1993. PMID: 8330405
-
The utility of lipid-associated sialic acid (LASA or LSA) as a serum marker for malignancy. A review of the literature.Tumour Biol. 1992;13(3):121-32. doi: 10.1159/000217755. Tumour Biol. 1992. PMID: 1626178 Review.
-
The role of liver endothelium in the transfer of iron from transferrin to the hepatocyte.Ann N Y Acad Sci. 1988;526:83-92. doi: 10.1111/j.1749-6632.1988.tb55494.x. Ann N Y Acad Sci. 1988. PMID: 3291688 Review. No abstract available.
Cited by
-
A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis.Front Genet. 2024 Jul 17;15:1402883. doi: 10.3389/fgene.2024.1402883. eCollection 2024. Front Genet. 2024. PMID: 39086474 Free PMC article.
-
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509. JCI Insight. 2024. PMID: 38587076 Free PMC article.
-
Mass Spectrometry of Transferrin and Apolipoprotein CIII from Dried Blood Spots for Congenital Disorders of Glycosylation.Mass Spectrom (Tokyo). 2022;11(1):A0113. doi: 10.5702/massspectrometry.A0113. Epub 2022 Dec 28. Mass Spectrom (Tokyo). 2022. PMID: 36713804 Free PMC article.
-
TMT-Based Multiplexed Quantitation of N-Glycopeptides Reveals Glycoproteome Remodeling Induced by Oncogenic Mutations.ACS Omega. 2022 Mar 25;7(13):11023-11032. doi: 10.1021/acsomega.1c06970. eCollection 2022 Apr 5. ACS Omega. 2022. PMID: 35415375 Free PMC article.
-
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.JCI Insight. 2021 Dec 22;6(24):e153474. doi: 10.1172/jci.insight.153474. JCI Insight. 2021. PMID: 34784297 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources