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Movement disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 598 - 613
inborn errors of metabolism | treatment | movement disorders | neurotransmitter disorders | neurogenetics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Amino Acid Metabolism, Inborn Errors - complications | Niemann-Pick Disease, Type C - therapy | Hepatolenticular Degeneration - therapy | Monosaccharide Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Folic Acid Deficiency - therapy | Hepatolenticular Degeneration - physiopathology | Vitamin E Deficiency - therapy | Dystonic Disorders - complications | Brain Diseases, Metabolic - diagnosis | Vitamin E Deficiency - diagnosis | Xanthomatosis, Cerebrotendinous - diagnosis | Basal Ganglia Diseases - diagnosis | Carbohydrate Metabolism, Inborn Errors - therapy | Dystonia - etiology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Parkinsonian Disorders - physiopathology | Chorea - physiopathology | Dystonia - physiopathology | Metabolic Diseases - diagnosis | Ataxia - diagnosis | Carbohydrate Metabolism, Inborn Errors - physiopathology | Metabolism, Inborn Errors - diagnosis | Folic Acid Deficiency - complications | Movement Disorders - physiopathology | Brain Diseases, Metabolic - physiopathology | Basal Ganglia Diseases - therapy | Ataxia - complications | Muscle Spasticity - physiopathology | Xanthomatosis, Cerebrotendinous - complications | Metabolic Diseases - complications | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology | Brain Diseases, Metabolic - complications | Glutaryl-CoA Dehydrogenase - deficiency | Carbohydrate Metabolism, Inborn Errors - complications | Ataxia - etiology | Hepatolenticular Degeneration - diagnosis | Metabolism, Inborn Errors - therapy | Niemann-Pick Disease, Type C - physiopathology | Parkinsonian Disorders - etiology | Amino Acid Metabolism, Inborn Errors - diagnosis | Brain Diseases, Metabolic - therapy | Xanthomatosis, Cerebrotendinous - therapy | Metabolic Diseases - therapy | Metabolic Diseases - physiopathology | Myoclonus - etiology | Vitamin E Deficiency - complications | Niemann-Pick Disease, Type C - diagnosis | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Hepatolenticular Degeneration - complications | Vitamin E Deficiency - physiopathology | Ataxia - physiopathology | Ataxia - therapy | Chorea - etiology | Amino Acid Metabolism, Inborn Errors - therapy | Basal Ganglia Diseases - complications | Folic Acid Deficiency - physiopathology | Myoclonus - physiopathology | Muscle Spasticity - etiology | Dystonic Disorders - diagnosis | Basal Ganglia Diseases - physiopathology | Movement Disorders - etiology | Xanthomatosis, Cerebrotendinous - physiopathology | Folic Acid Deficiency - diagnosis | Niemann-Pick Disease, Type C - complications | Dystonic Disorders - etiology | Metabolism, Inborn errors of | Education | Mortality | Finance | Physiological aspects | Creatine | Movement disorders | Energy metabolism | Inborn errors of metabolism | Lysosomal storage diseases | Metabolism | Autophagy | Morbidity | Quality of life | Phenomenology | Psychiatrists | Differential diagnosis | Children | Phagocytosis | Index Medicus
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1127 - 1133
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 3/2010, Volume 25, Issue 3, pp. 415 - 424
Journal Article