A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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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Glycine Encephalopathy
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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Neuroimaging Features of Biotinidase Deficiency
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Neurological Findings in Aminoacylase 1 Deficiency
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Glycogen-Storage Disease Type II
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Coma in a Young Anorexic Woman
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Clumsiness, Confusion, Coma, and Valproate
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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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Brain Imaging in Late-Onset CM2 Gangliosidosis
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Psychiatric Disturbances in Metachromatic Leukodystrophy
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
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Fucosidosis Revisited:A Review of 77 Patients
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NEJM 322:432-437, Mitchell,G.,et al, 1990
Adult Phosphorylase b Kinase Deficiency
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980
Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980
Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia
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Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
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The Cherry-red Spot-Myoclonus Syndrome
Ann Neurol 3:234, Rapin,I.,et al, 1978
Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978
Neurological Manifestations of Fabry Disease in Female Carriers
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The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
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