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Article

[Type 1 Gaucher disease in a pediatric patient: 12 year's evolution].

Sangre - 1 Jun 1997

García M, Casanova C, Chabás A, Viosca E, Martínez B

Abstract excerpt

A 14 years old patient, diagnosed in early childhood of type 1 Gaucher's disease is reported to show his unusual genotype and clinical course. The patient is heterozygous for mutation D409H, that in the homozygous patient determines an aggressive disease accompanied by neurological signs, and for a new mutation, which must be considered of mild effects. Early detection of bone involvement is emphasized as a...

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Source

Identifiers

PMID: 9381267

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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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