| Document Date: 2011-01-16 02:53:01
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City Atlanta / Portland / OMIM / New York / Elpeleg / / Company Pearson / Cox / McGraw-Hill / / Facility Arch Dis Child / Bridge PJ / / IndustryTerm care of the neutropenia and cardiac failure / respiratory chain / disturbed mitochondrial energy metabolism / / MedicalCondition arrhythmia / Mitochondrial ATP-synthase deficiency / optic atrophy / cerebral palsy / hypertrophic cardiomyopathy / TB / cardiomyopathy / myelocyte stage causing granulocytopenia / bacterial infections / as yet unspecified disorders / suspected Barth syndrome / cardiac failure / recurrent infections / myotonic dystrophy / metabolic Stroke / optic atrophy syndrome / cervical lymphadenopathy / NEUTROPENIA / hydratase deficiency / Reye syndrome / Behr's syndrome / CoA hydratase deficiency / fever / hepatic dysfunction / Inherited Disease / heart failure / skeletal myopathy / severe illness / X-LINKED CARIOSKELATAL MYOPATHY / Pancreatitis / developmental language delay / Dilated cardiomyopathy / Common infections / Nephrocalcinosis / medullary cysts / infection / cardioskeletal myopathy / Smith-Lemli-Opitz syndrome / TYPE IIBARTH SYNDROME / MS / BARTH SYNDROME / neurometabolic disease / syndrome / cyclic neutropenia / / Person Ann Neurol / Jay V / Sara Copeland / Judith Tuerck / Lorinda Paradise / / Position Carpenter / Hadorn HB / / Product digoxin / / ProvinceOrState New York / / PublishedMedium Natural History / / RadioStation Vaz FM / Cantlay AM / / Technology genotype / MRI / / URL www.geneclinics.org / /
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Disease Name: 3-METHYLGLUTACONIC ACIDURIA TYPE II (X-LINKED CARIOSKELATAL MYOPATHY, NEUTROPENIA & ABNORMAL MITOCHONDRIA) (BARTH SYNDROME; MGA, TYPE II)