Deficit di maltasi acida ad esordio precoce con esclusivo interessamento muscolare

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

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-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 contribution	Early-onset acid maltase deficiency with pure muscular involvement
Original language	Italian
Pages (from-to)	238-242
Number of pages	5
Journal	Rivista Italiana di Pediatria
Volume	22
Issue number	2
Publication status	Published - 1996

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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title = "Deficit di maltasi acida ad esordio precoce con esclusivo interessamento muscolare",

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.",

keywords = "Acid maltase, Pompe's disease",

author = "M. Bado and C. Bruno and M. Stroppiano and G. Morreale and C. Minetti and A. Rimini and G. Cordone",

year = "1996",

language = "Italian",

volume = "22",

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T1 - Deficit di maltasi acida ad esordio precoce con esclusivo interessamento muscolare

AU - Bado, M.

AU - Bruno, C.

AU - Stroppiano, M.

AU - Morreale, G.

AU - Minetti, C.

AU - Rimini, A.

AU - Cordone, G.

PY - 1996

Y1 - 1996

N2 - 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.

AB - 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.

KW - Acid maltase

KW - Pompe's disease

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M3 - Articolo

AN - SCOPUS:33747301759

VL - 22

SP - 238

EP - 242

JO - Rivista Italiana di Pediatria

JF - Rivista Italiana di Pediatria

SN - 0392-5161

IS - 2

ER -

Deficit di maltasi acida ad esordio precoce con esclusivo interessamento muscolare

Abstract

ASJC Scopus subject areas

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