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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2018, Volume 41, Issue 6, pp. 1275 - 1283
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
Neurobiology of Aging, ISSN 0197-4580, 2014, Volume 35, Issue 5, pp. 1111 - 1115
Journal Article
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
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
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