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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
Movement disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 625 - 636
cerebral palsy | inborn errors of metabolism | spasticity | ataxia | dystonia | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - diagnostic imaging | Monosaccharide Transport Proteins - deficiency | Lesch-Nyhan Syndrome - therapy | Spastic Paraplegia, Hereditary - diagnosis | Humans | Movement Disorders - diagnosis | Folic Acid Deficiency - therapy | Lesch-Nyhan Syndrome - genetics | Cerebral Palsy - diagnosis | Multiple Carboxylase Deficiency - genetics | Carbohydrate Metabolism, Inborn Errors - therapy | Brain Diseases, Metabolic, Inborn - genetics | Dyskinesias - genetics | Folic Acid Deficiency - genetics | Multiple Carboxylase Deficiency - physiopathology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Monosaccharide Transport Proteins - genetics | Chorea - physiopathology | Creatine - genetics | Hyperargininemia - physiopathology | Dyskinesias - physiopathology | Dystonia - physiopathology | Pelizaeus-Merzbacher Disease - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Carbohydrate Metabolism, Inborn Errors - physiopathology | Magnetic Resonance Imaging | Hyperargininemia - diagnosis | Movement Disorders - physiopathology | Dyskinesias - diagnosis | Hyperargininemia - genetics | Ataxia Telangiectasia - genetics | Lesch-Nyhan Syndrome - diagnosis | Brain Diseases, Metabolic, Inborn - therapy | Muscle Spasticity - physiopathology | Movement Disorders - genetics | Multiple Carboxylase Deficiency - diagnosis | Multiple Carboxylase Deficiency - therapy | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Spastic Paraplegia, Hereditary - genetics | Cerebral Palsy - physiopathology | Lesch-Nyhan Syndrome - physiopathology | Mental Retardation, X-Linked - physiopathology | Carbohydrate Metabolism, Inborn Errors - genetics | Brain Diseases, Metabolic, Inborn - diagnosis | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - diagnosis | Hyperargininemia - therapy | Creatine - deficiency | Thyroid Nuclear Factor 1 - genetics | Pelizaeus-Merzbacher Disease - therapy | Spastic Paraplegia, Hereditary - physiopathology | Mental Retardation, X-Linked - therapy | Ataxia Telangiectasia - diagnosis | Ataxia Telangiectasia - physiopathology | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Ataxia - physiopathology | Ataxia Telangiectasia - therapy | Diagnosis, Differential | Pelizaeus-Merzbacher Disease - genetics | Spastic Paraplegia, Hereditary - therapy | Brain Diseases, Metabolic, Inborn - physiopathology | Folic Acid Deficiency - physiopathology | Dyskinesias - therapy | Movement Disorders - therapy | Pelizaeus-Merzbacher Disease - physiopathology | Folic Acid Deficiency - diagnosis | Adenylyl Cyclases - genetics | Cerebral palsy | Development and progression | Medical genetics | Neuroimaging | Genetic counseling | Etiology | Chorea | Spasticity | Ataxia | Dystonia | Children | Paralysis | Neurodevelopmental disorders | Metabolic disorders | Index Medicus
Journal Article
Annals of neurology, ISSN 0364-5134, 03/2019, Volume 85, Issue 3, pp. 352 - 358
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Anti-N-Methyl-D-Aspartate Receptor Encephalitis - psychology | Autoimmune Diseases - physiopathology | Memory Disorders - physiopathology | Autoimmune Diseases of the Nervous System - psychology | Humans | Middle Aged | Ataxia - etiology | Limbic Encephalitis - complications | Male | Language Disorders - physiopathology | Aggression - psychology | Young Adult | Anti-N-Methyl-D-Aspartate Receptor Encephalitis - physiopathology | Autoimmune Diseases of the Nervous System - physiopathology | Seizures - physiopathology | Encephalitis - physiopathology | Encephalomyelitis, Acute Disseminated - complications | Gait Disorders, Neurologic - physiopathology | Adult | Female | Encephalitis - complications | Dystonia - etiology | Limbic Encephalitis - physiopathology | Encephalitis - psychology | Muscle Weakness - etiology | Severity of Illness Index | Ataxia - physiopathology | Reproducibility of Results | Autoimmune Diseases - psychology | Limbic Encephalitis - psychology | Autoimmune Diseases - complications | Delusions - psychology | Dyskinesias - physiopathology | Dystonia - physiopathology | Encephalomyelitis, Acute Disseminated - physiopathology | Anti-N-Methyl-D-Aspartate Receptor Encephalitis - complications | Dyskinesias - etiology | Autoimmune Diseases of the Nervous System - complications | Hallucinations - psychology | Language Disorders - etiology | Encephalomyelitis, Acute Disseminated - psychology | Memory Disorders - etiology | Adolescent | Seizures - etiology | Aged | Muscle Weakness - physiopathology | Gait Disorders, Neurologic - etiology | Correlation coefficient | Encephalitis | Signs and symptoms | Stability | Gait | Mental disorders | Brain stem | Correlation coefficients | Consistency | Patients | Acceptability | Validity | Reproducibility | Correlation analysis | Ataxia | Dystonia | Autoimmune diseases | Reliability | Dyskinesia | Index Medicus
Journal Article
Journal Article