- ... 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 ...
- ... maltase</synonym><synonym >Lysosomal glycogen storage disease without acid maltase deficiency</synonym><synonym >X-linked pseudoglycogenosis II</synonym><synonym > ...
- ... name><other_name >Lysosomal glycogen storage disease without acid maltase deficiency</other_name><other_name >X-linked pseudoglycogenosis II</ ...
- ... 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 – ...
- ... II Antopol disease Lysosomal glycogen storage disease without acid maltase deficiency Prevalence Danon disease is rare; measures of the ...
- ... 2 (See GNE -Related Myopathy .) Mitochondrial myopathies Adult acid maltase deficiency (See Pompe Disease .) Congenital myopathies Polymyositis More troublesome ...
- ... A-T Children's Project About Face International (Canada) Acid Maltase Deficiency Association Action for XP ADCY5.org Adrenoleukodystrophy Foundation ...
- Resource Bibliography - Enzyme-Replacement Therapies for Lysosomal Storage Diseases - NCBI Bookshelf... 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 ...
- ... 2 CNBP AD +++ – ++ No joint contractures Myopathy w/maltase acid deficiency GAA AR +++ – ++ (rare cases) No joint contractures Peculiar ...
- ... facial weakness Late-onset Pompe disease (late-onset glycogen storage disease type II) GAA AR Proximal muscle weakness Respiratory insufficiency Early ...
18 results