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18 results
  1. ... organizations. For information on selection criteria, click here . Acid Maltase Deficiency Association (AMDA) Phone: 210-494-6144 Email: info@ ... Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle ...
  2. ... maltase</synonym><synonym >Lysosomal glycogen storage disease without acid maltase deficiency</synonym><synonym >X-linked pseudoglycogenosis II</synonym><synonym > ...
  3. ... name><other_name >Lysosomal glycogen storage disease without acid maltase deficiency</other_name><other_name >X-linked pseudoglycogenosis II</ ...
  4. ... for the treatment of Type 1 Gaucher disease. Glycogen Storage Disease type II (Pompe Disease) Eight studies of alglucosidase alfa as treatment for glycogen storage disease type II (Pompe disease) are summarized in Table 10 . 72 – ...
  5. ... II Antopol disease Lysosomal glycogen storage disease without acid maltase deficiency Prevalence Danon disease is rare; measures of the ...
  6. ... 2 (See GNE -Related Myopathy .) Mitochondrial myopathies Adult acid maltase deficiency (See Pompe Disease .) Congenital myopathies Polymyositis More troublesome ...
  7. ... A-T Children's Project About Face International (Canada) Acid Maltase Deficiency Association Action for XP ADCY5.org Adrenoleukodystrophy Foundation ...
  8. ... et al. Progress in enzyme replacement therapy in glycogen storage disease type II. Therapeutic Advances in Neurological Disorders. 2009; 2 (3): ... therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inherit ...
  9. ... 2 CNBP AD +++ – ++ No joint contractures Myopathy w/maltase acid deficiency GAA AR +++ – ++ (rare cases) No joint contractures Peculiar ...
  10. ... facial weakness Late-onset Pompe disease (late-onset glycogen storage disease type II) GAA AR Proximal muscle weakness Respiratory insufficiency Early ...
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