Adult Acid Maltase Deficiency : an Open Trial with Albuterol and Branched-Chain Aminoacids

@inproceedings{Angelini2004AdultAM,
  title={Adult Acid Maltase Deficiency : an Open Trial with Albuterol and Branched-Chain Aminoacids},
  author={Corrado I. Angelini and Elena Pegoraro and Sandro Zambito Marsala and Lodovica Vergani and Anna Chiara Nascimbeni and Luigi Fulizio and Marina Fanin},
  year={2004}
}
We studied natural history and morphological features in 10 adult onset Acid Maltase Deficient (AMD) patients who were ambulant (age range 23-69 yrs), and 1 juvenile-onset AMD patient, who was wheelchair-bound and respirator-dependent (disease duration 36 yrs). Morphological features in muscle biopsy showed a vacuolar myopathy, there was Golgi apparatus proliferation within fibers, the autophagic vacuoles were positive at their periphery for caveolin-3 and dystrophin, documenting extensive… CONTINUE READING
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