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Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2011, Volume 10, Issue 1, pp. 54 - 62
Summary Background Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine... 
Neurology | METABOLITES | TRANSMISSION | INFANTILE PARKINSONISM-DYSTONIA | CSF | NEUROSCIENCE | DISORDERS | TYROSINE-HYDROXYLASE DEFICIENCY | MONOAMINE TRANSPORTERS | CLINICAL NEUROLOGY | Brain - diagnostic imaging | Dystonia - cerebrospinal fluid | Parkinsonian Disorders - cerebrospinal fluid | Tomography, Emission-Computed, Single-Photon - methods | Humans | Child, Preschool | Dopamine Plasma Membrane Transport Proteins - deficiency | Hydroxyindoleacetic Acid - cerebrospinal fluid | Infant | Male | Ocular Motility Disorders - genetics | Dystonia - genetics | Transfection - methods | Parkinsonian Disorders - diagnostic imaging | Female | Parkinsonian Disorders - genetics | Retrospective Studies | Homovanillic Acid - cerebrospinal fluid | Child | Parkinsonian Disorders - physiopathology | Dystonia - physiopathology | Mutation - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Brain - pathology | Ocular Motility Disorders - physiopathology | Dystonia - diagnostic imaging | Cell Line, Transformed | Cohort Studies | Medical colleges | Medical research | Neurosciences | Dopamine | Molecular genetics | Medicine, Experimental | Phenols | Genetic aspects | Biomedical engineering | Pediatrics | Basal ganglia | Congenital defects | Central nervous system diseases | homovanillic acid | Photons | Cerebrospinal fluid | Pyramidal tracts | Drug development | Hereditary diseases | Eye | Hospitals | Computed tomography | Phenotyping | Dopamine transporter | Children | Mutation | Paralysis | Age | Movement disorders | Fast track
Journal Article
Neurochemical Research, ISSN 0364-3190, 04/2007, Volume 32, Issue 4-5, pp. 837 - 843
Some hereditary ataxias are treatable and the insight required for this has come from an in depth knowledge of the phenotypes and clinical biochemistry of the... 
Journal Article
BBA - Proteins and Proteomics, ISSN 1570-9639, 06/2016, Volume 1864, Issue 6, pp. 676 - 682
We report here a clinical case of a patient with a novel mutation (Arg347 → Gly) in the gene encoding aromatic amino acid decarboxylase (AADC) that is... 
Pathogenic variant | Pyridoxal 5′-phosphate | Aromatic amino acid decarboxylase | AADC deficiency | Pyridoxal 5'-phosphate | Enzymes | Amino acids | Genetic aspects | Catalysis | Hydrogen | Analysis | Glycine
Journal Article
Neurochemical Research, ISSN 0364-3190, 4/2007, Volume 32, Issue 4, pp. 837 - 843
Some hereditary ataxias are treatable and the insight required for this has come from an in depth knowledge of the phenotypes and clinical biochemistry of the... 
Biochemistry, general | Neurology | Neurosciences | Biomedicine | Ubiquinone | Friedreich | Refsum's disease | Ataxia | Refsum Disease - metabolism | Ataxia - physiopathology | Coenzymes | Animals | Oxidation-Reduction | Humans | Ubiquinone - analogs & derivatives | Ubiquinone - deficiency | Ataxia - etiology | Energy Metabolism - physiology | Keto Acids - metabolism
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2014, Volume 35, Issue 5, pp. 1111 - 1115
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2018, Volume 41, Issue 6, pp. 1275 - 1283
Journal Article
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