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Article

[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].

Revista de neurologia - 1 Nov 2015

Ley-Martos Myriam, Salado-Reyes María J, Espinosa-Rosso Raúl, Solera-García Jesús, Jiménez-Jiménez Luis

Abstract excerpt

INTRODUCTION: Pompe disease is a generalized progressive disease caused by a deficiency of the lysosome enzyme acid alpha-glucosidase (GAA). We present three cases with different clinical symptomatology and treated with enzyme replacement therapy (ERT) with positive evolution. CASE REPORTS: Case 1: three-month old male, with weakness and rejecting meals; mild hepatomegaly, discrete macroglossia and muscular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26503317

Genes

TES
AGA
GAA

Provenance

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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