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Article

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis.

Journal of inherited metabolic disease - 1 Oct 2007

Brunetti-Pierri Nicola, Mian Asad, Luetchke Rebecca, Graham Brett H

Abstract excerpt

Diagnosis of GM1 gangliosidosis (OMIM 230500) is usually based on the presence of physical signs of storage such as coarse facial features, corneal clouding, cherry red macula, hepatosplenomegaly and skeletal dysostosis. More rarely it can present as nonimmune hydrops. We describe a male patient with GM1 gangliosidosis born to healthy first-cousin parents of Indian Asian descent. The disease was recognized on the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17712606
DOI: 10.1007/s10545-007-0628-5

Genes

GLB1

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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