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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
Nephrology (Carlton, Vic.), ISSN 1320-5358, 10/2018, Volume 23, Issue 10, pp. 957 - 961
Journal Article
Journal Article
Annals of nutrition and metabolism, ISSN 0250-6807, 1/2016, Volume 68, Issue 3, pp. 1 - 4
Carnitine Deficiency Disorders in Pediatrics | Carnitine deficiency | Inborn errors of metabolism | Metabolic disorders | Carnitine | Lipid Metabolism, Inborn Errors - diet therapy | History, 21st Century | Humans | Lipid Metabolism, Inborn Errors - drug therapy | Cardiomyopathies - prevention & control | Infant | Carnitine - history | Lipid Metabolism, Inborn Errors - history | Metabolism, Inborn Errors - history | Cardiomyopathies - physiopathology | Deficiency Diseases - diet therapy | Carnitine - deficiency | Muscular Diseases - physiopathology | Orphan Drug Production - history | Adult | Muscular Diseases - history | Muscular Diseases - prevention & control | Dietary Supplements - adverse effects | Child | Carnitine Acyltransferases - history | Carnitine - administration & dosage | Hyperammonemia - physiopathology | Cardiomyopathies - history | Cardiomyopathies - diet therapy | History, 20th Century | Carnitine Acyltransferases - deficiency | Clinical Trials as Topic | Deficiency Diseases - prevention & control | Hyperammonemia - history | Hyperammonemia - prevention & control | Nutritional Sciences - history | Deficiency Diseases - history | Hyperammonemia - diet therapy | Metabolism, Inborn Errors - diet therapy | Carnitine - adverse effects | Lipid Metabolism, Inborn Errors - physiopathology | Administration, Intravenous | Muscular Diseases - diet therapy | Energy Metabolism | Carnitine - therapeutic use | Deficiency Diseases - physiopathology | Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn Errors - physiopathology | Child Nutrition Sciences - history | Clinical trials | Physiological aspects | Health aspects | Drug approval | Index Medicus
Journal Article
American journal of kidney diseases, ISSN 0272-6386, 2013, Volume 63, Issue 1, pp. 119 - 123
Nephrology | MMACHC (methylmalonic aciduria and homocystinuria type C protein) | cobalamin C disease | eculizumab | cobalamin | chronic kidney failure | Hemolytic uremic syndrome (HUS) | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Errors of metabolism | Nephropathies. Renovascular diseases. Renal failure | Renal failure | Nephrology. Urinary tract diseases | Biological and medical sciences | Metabolic diseases | Medical sciences | Aminoacid disorders | Methionine - blood | Recurrence | Kidney - pathology | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Male | Leucovorin | Homocystinuria - metabolism | Hydroxocobalamin - administration & dosage | Vitamin B Complex - administration & dosage | Kidney Function Tests | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Betaine - administration & dosage | Homocystinuria - physiopathology | Kidney - metabolism | Homocysteine - urine | Amino Acid Metabolism, Inborn Errors - genetics | Antibodies, Monoclonal, Humanized - pharmacology | Adult | Drug Resistance | Kidney - physiopathology | Methylmalonic Acid - urine | Diagnosis, Differential | Homocystinuria - drug therapy | Treatment Outcome | Vitamin B 12 Deficiency - congenital | Carrier Proteins - genetics | Hypertension, Malignant - etiology | Lipotropic Agents - administration & dosage | Biopsy | Mutation | Homocystinuria - diagnosis | Homocystinuria - genetics | Immunologic Factors - pharmacology | Amino Acid Metabolism, Inborn Errors - drug therapy | Renal Dialysis | Index Medicus | Immunologic Factors | Hypertension, Malignant | Kidney | Life Sciences | Antibodies, Monoclonal, Humanized | Homocystinuria | Immunology | Betaine | Carrier Proteins | Hydroxocobalamin | Methionine | Amino Acid Metabolism, Inborn Errors | Vitamin B Complex | Lipotropic Agents | Methylmalonic Acid | Homocysteine
Journal Article