Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Frequently Missed Diagnosis?
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Inborn Errors of Urea Synthesis
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Overview of Phenylketonuria
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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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JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Dipsticks and Convulsions
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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
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Clinicopath Conf
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Neurologic Crises in Hereditary Tyrosinemia
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
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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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