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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
Brain (London, England : 1878), ISSN 0006-8950, 11/2014, Volume 137, Issue 11, pp. 3036 - 3046
differential diagnosis | DIFFERENTIAL-DIAGNOSIS | corticobasal degeneration | ATROPHY | ALZHEIMERS-DISEASE | PATTERNS | brain networks | ACCURACY | PARKINSONIAN-SYNDROMES | glucose metabolism | FDG PET | ONSET | PROGRESSIVE SUPRANUCLEAR PALSY | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Humans | Middle Aged | Parkinsonian Disorders - diagnosis | Cerebral Cortex - pathology | Neurodegenerative Diseases - diagnosis | Male | Cerebral Cortex - metabolism | Parkinsonian Disorders - metabolism | Sensitivity and Specificity | Multiple System Atrophy - metabolism | Aged, 80 and over | Basal Ganglia Diseases - diagnosis | Cerebrum - metabolism | Female | Metabolic Networks and Pathways - physiology | Multiple System Atrophy - diagnosis | Cerebrum - pathology | Neurodegenerative Diseases - classification | Diagnosis, Differential | Reproducibility of Results | Neurodegenerative Diseases - metabolism | Positron-Emission Tomography - methods | Basal Ganglia Diseases - classification | Supranuclear Palsy, Progressive - classification | Basal Ganglia Diseases - metabolism | Nerve Net - metabolism | Supranuclear Palsy, Progressive - metabolism | Fluorodeoxyglucose F18 | Aged | Multiple System Atrophy - classification | Supranuclear Palsy, Progressive - diagnosis | Index Medicus | Abridged Index Medicus | Original
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 2011, Volume 34, Issue 3, pp. 677 - 694
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 |