Pyruvate Dehydrogenase Deficiency (PDCD)
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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Alternating Hemiplegia of Childhood
Int Pediatr 2:115-119, Aicardi,J., 1987
Clin. Path. Conference
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
Neurol 34:1531-1541, Williams,R.S.,et al, 1984
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Lumbosacral Radiculomyelitis Assoc with Pandemic Acute Hemorrhagic Conjunctivitis
Letter Lancet Feb 1973., Wadia,N.H.,et al, 1973