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Article

Congenital disorder of glycosylation-Ic: case report and genetic defect.

Neuropediatrics - 1 Apr 2000

Hanefeld F, Körner C, Holzbach-Eberle U, von Figura K

Abstract excerpt

The clinical phenotype and the molecular defect of a patient with a new subtype of congenital disorders of glycosylation (CDG-Ic, formerly designated as CDGS type V) characterized by a deficiency of Dol-P-Glc: Man9GlcNAc2-PP-Dol glucosyltransferase is described. The clinical picture presents with several features similar to CDG-Ia (phosphomannomutase 2 deficiency) such as hypotonia and atactic-dystonic movements....

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Identifiers

PMID: 10832578
DOI: 10.1055/s-2000-7486

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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