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Article

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Amalfitano A, Bengur A R, Morse R P, Majure J M, Case L E, Veerling D L, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan J A, Hoganson G E, Phillips J A, Schaefer G B, Charrow J, Ware R E, Bossen E H, Chen Y T

Abstract excerpt

PURPOSE: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). The purpose of this study was to investigate the safety and efficacy of recombinant human GAA (rhGAA) enzyme therapy for this fatal disorder. METHODS: The study was designed as a phase I/II, open-label, single-dose study of rhGAA infused intravenously twice weekly...

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Identifiers

PMID: 11286229
DOI: 10.109700125817-200103000-00007

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GAA

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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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