Glycogen-Storage Disease Type II
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Phosphorylase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Recurrent Acroparaesthesia During Febrile Infections
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Fucosidosis Revisited:A Review of 77 Patients
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Neurologic Crises in Hereditary Tyrosinemia
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Acid Maltase Deficiency
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
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Fatal Infantile Form of Muscle Phosphorylase Deficiency
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Neurological Manifestations of Fabry Disease in Female Carriers
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