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.
| 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 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Deficit di maltasi acida ad esordio precoce con esclusivo interessamento muscolare. / Bado, M.; Bruno, C.; Stroppiano, M.; Morreale, G.; Minetti, C.; Rimini, A.; Cordone, G.
In: Rivista Italiana di Pediatria, Vol. 22, No. 2, 1996, p. 238-242.Research output: Contribution to journal › Article
}
TY - JOUR
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
UR - http://www.scopus.com/inward/record.url?scp=33747301759&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33747301759&partnerID=8YFLogxK
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 -