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Article

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

The Journal of pediatrics - 1 Dec 2019

Arash-Kaps Laila, Komlosi Katalin, Seegräber Marlene, Diederich Stefan, Paschke Eduard, Amraoui Yasmina, Beblo Skadi, Dieckmann Andrea, Smitka Martin, Hennermann Julia B

Abstract excerpt

OBJECTIVE: To evaluate the clinical presentation of patients with GM1 gangliosidosis and to determine whether specific clinical or biochemical signs could lead to a prompt diagnosis. STUDY DESIGN: We retrospectively analyzed clinical, biochemical, and genetic data of 22 patients with GM1 gangliosidosis from 5 metabolic centers in Germany and Austria. RESULTS: Eight patients were classified as infantile, 11 as...

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Identifiers

PMID: 31761138
DOI: 10.1016/j.jpeds.2019.08.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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