Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation - PubMed (original) (raw)

• Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
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• SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
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• Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
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• Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.
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• [UDP galactose transporter].
  Ishida N, Kawakita M. Ishida N, et al. Seikagaku. 1997 Sep;69(9):1101-6. Seikagaku. 1997. PMID: 9364878 Review. Japanese. No abstract available.