Deficit di maltasi acida ad esordio precoce con esclusivo interessamento muscolare

Translated title of the contribution: Early-onset acid maltase deficiency with pure muscular involvement

M. Bado, C. Bruno, M. Stroppiano, G. Morreale, C. Minetti, A. Rimini, G. Cordone

Research output: Contribution to journalArticlepeer-review

Abstract

The Authors present five cases of acid maltase deficiency with onset from birth to 18 th months, variable generalized hypotonia and weakness, fatal outcome in few months/years due to respiratory deficiency, without cardiac involvement. The Authors discuss the possible differential diagnosis among the different types of acide maltase deficiency. The transaminase elevation can reveal the illness in a subclinic state.

Translated title of the contributionEarly-onset acid maltase deficiency with pure muscular involvement
Original languageItalian
Pages (from-to)238-242
Number of pages5
JournalRivista Italiana di Pediatria
Volume22
Issue number2
Publication statusPublished - 1996

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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