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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, 07/2012, Volume 27, Issue 8, pp. 935 - 946
Journal Article
Journal Article
Respiratory medicine, ISSN 0954-6111, 2017, Volume 129, pp. 16 - 23
Pulmonary/Respiratory | NKX2-1 | Treatment | Prognosis | Surfactant | Interstitial lung disease | Steroids | Cardiac & Cardiovascular Systems | Respiratory System | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Respiratory Distress Syndrome, Newborn - complications | Humans | Athetosis - genetics | Male | Pulmonary Surfactants - metabolism | Respiratory Distress Syndrome, Newborn - pathology | Tomography, X-Ray Computed | Lung Diseases - therapy | Pulmonary Surfactant-Associated Protein B - genetics | Lung Diseases, Interstitial - diagnostic imaging | Lung Diseases, Interstitial - therapy | Chorea - complications | Respiratory Distress Syndrome, Newborn - etiology | Pulmonary Alveolar Proteinosis - genetics | Congenital Hypothyroidism - genetics | Respiratory Distress Syndrome, Newborn - genetics | Adult | Female | Thyroid Nuclear Factor 1 - genetics | Retrospective Studies | Lung Diseases, Interstitial - physiopathology | Child | Genes, Homeobox | France - epidemiology | Pulmonary Surfactant-Associated Protein B - deficiency | Respiratory Function Tests - methods | Treatment Outcome | Lung Diseases, Interstitial - complications | Chorea - pathology | Pulmonary Alveolar Proteinosis - complications | Lung Diseases - genetics | Lung Diseases, Interstitial - genetics | Athetosis - complications | Adolescent | Congenital Hypothyroidism - pathology | Lung Diseases - complications | Bronchoalveolar Lavage Fluid - chemistry | Lung Diseases - pathology | Mutation | Chorea - genetics | Athetosis - pathology | Congenital Hypothyroidism - complications | Analysis | Lung diseases | Therapeutics | Genetic research | Transplantation of organs, tissues, etc | Pulmonary function tests | Genetic aspects | Homeopathy | Materia medica and therapeutics | Development and progression | Hypothyroidism | Neonates | Brain | Respiratory function | Transcription factors | Intelligence | Syngeneic grafts | Lung transplantation | Azithromycin | Families & family life | Transplantation | Thyroid gland | Homeobox | Proteins | Heterogeneity | Genetic analysis | Xenografts | Diagnosis | Children | Deoxyribonucleic acid--DNA | Thyroid | Surfactants | Patients | Hydroxychloroquine | Pulmonary fibrosis | Respiratory distress syndrome | Steroid hormones | Index Medicus
Journal Article
Journal of the neurological sciences, ISSN 0022-510X, 2012, Volume 323, Issue 1, pp. 16 - 24
Journal Article