Duchenne Muscular Dystrophy
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Diagnosis and Treatment of Wilson's Disease
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Clinicopath Conf
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Hereditary Hemorrhagic Telangiectasia
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Wilson Disease
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Wilson's Disease:Current Status
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Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Homing in on Wilson's Disease
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Idiopathic Hemochromatosis (IHC) :Dementia & Ataxia as Presenting Signs
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Diagnosis of Treatable Wilson's Disease
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Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
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