Danon Disease: An Unusual Presentation of Autism

Danon disease is an X-linked cardioskeletal myopathy, originally reported as “lysosomal glycogen storage disease with normal acid maltase,” resulting from a primary deficiency of lysosome-associated membrane protein-2 because of mutations in the lysosome-associated membrane protein-2 gene. Classic c...

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Veröffentlicht in:	Pediatric neurology 2008-07, Vol.39 (1), p.52-54
Hauptverfasser:	Burusnukul, Prinyarat, MD, de los Reyes, Emily C., MD, Yinger, Jacqueline, CNP, Boué, Daniel R., MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Autistic Disorder - etiology Autistic Disorder - psychology Biological and medical sciences Brain - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Genetic Diseases, X-Linked - pathology Genetic Diseases, X-Linked - psychology Glycogen Storage Disease Type IIb - complications Glycogen Storage Disease Type IIb - psychology Humans Infant Lysosomal Storage Diseases, Nervous System - pathology Lysosomal Storage Diseases, Nervous System - psychology Magnetic Resonance Imaging Male Medical sciences Muscle, Skeletal - pathology Muscular Diseases - pathology Muscular Diseases - psychology Neurology Pediatrics Syndrome
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