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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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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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Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
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Glycogen-Storage Disease Type II
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Inborn Errors of Urea Synthesis
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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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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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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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Neuropathology of Sanfilippo Syndrome
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