Aromatic L-Amino Acid Decarboxylase Deficiency
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Clinicopath Conf, Infantile Krabbe Disease
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Glycogen-Storage Disease Type II
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Inborn Errors of Urea Synthesis
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Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
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Progressive Neuropathy & Recurrent Myoglobinuria in a Child with Long-chain 3-Hydroxyacylcoenzyme A Dehydrogenase Defic
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Fucosidosis Revisited:A Review of 77 Patients
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Neurologic Crises in Hereditary Tyrosinemia
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Adult Phosphorylase b Kinase Deficiency
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Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
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A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
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Phosphorylase Deficiency
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
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Late Adult-onset Metachromatic Leukodystrophy
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Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
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