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 |
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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