A 27-Year Old Man with Rapidly Progressive Coma
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Inherited Metabolic Diseases of the Nervous System, Maple Syrup Urine Disease
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Overview of Phenylketonuria
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Phenylketonuria
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Reye's Syndrome 30 Years On, Possible Marker of Inherited Metabolic Disorders
BMJ 307:950-951, Glasgow,J.F.T.&Moore,R., 1993
Clinicopath Conf
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Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Cognitive Delay in a 7-year-old Girl
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3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
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Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007
Neurological Findings in Aminoacylase 1 Deficiency
Neurol 68:2151-2153, Sass,J.O.,et al, 2007
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Frequently Missed Diagnosis?
Neurol 67:1519, Koppel,S.,et al, 2006
Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Dipsticks and Convulsions
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Inborn Errors of Urea Synthesis
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Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
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Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
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Neurologic Crises in Hereditary Tyrosinemia
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Agenesis of the Corpus Callosum:A Marker for Inherited Metabolic Disease
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Agenesis of the Corpus Callosum and Gyral Malformations are Frequent Manifestations of Nonketotic Hyperglycinemia
Neurol 39:817-820, Dobyns,W.B., 1989
Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
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Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
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Inborn Errors of Metabolism in Children Referred with Reye's Syndrome, A Changing Pattern
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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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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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