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Article

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.

Acta neuropathologica - 1 Apr 2005

Aronica E, van Kempen A A M W, van der Heide M, Poll-The B T, van Slooten H J, Troost D, Rozemuller-Kwakkel J M

Abstract excerpt

Congenital disorders of glycosylation (CDG) represent a newly delineated group of inherited multisystem disorders characterized by defective glycoprotein biosynthesis. In the present study we report and discuss the clinical and neuropathological findings in a newborn with CDG type Ia (CDG-Ia). The patient presented mild dysmorphic facial features, inverted nipples, progressive generalized edema, hypertrophic...

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Source

Identifiers

PMID: 15714316
DOI: 10.1007/s00401-004-0975-3

Genes

PMM2

Provenance

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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Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.PMID 15714316Read ↗

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