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c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 May 2024

Zouiri Ghizlane, Rhouda Hajar, Kriouile Yamna

Abstract excerpt

Gaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase (GBA) deficiency. There are three subcategories of GD: Type 1 is characterized by the absence of primary central nervous system involvement; type 2 is an acute neuropathic disorder; and type 3 is chronic neuropathic. The correlation between genotype and phenotype is sometimes difficult to establish. The F213I (c.754T>A p.Phe252Ile)...

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Identifiers

PMID: 38485567
DOI: 10.1016/j.arcped.2023.11.002

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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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