Defects of thiamine transport and metabolism

Journal of Inherited Metabolic Disease

Volumn 37, Issue 4, 2014, Pages 577-585

  Brown, Garry ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOACID DEHYDROGENASE; BIOTIN; CARRIER PROTEINS AND BINDING PROTEINS; COCARBOXYLASE; PYRUVATE DEHYDROGENASE; REDUCED FOLATE CARRIER; RIBOSE 5 PHOSPHATE; SLC19A2 PROTEIN; SLC19A3 PROTEIN; THIAMINE; THIAMINE PHOSPHATE; THIAMINE PYROPHOSPHOKINASE; THIAMINE TRANSPORTER 1; THIAMINE TRANSPORTER 2; UNCLASSIFIED DRUG; VITAMIN BINDING PROTEIN; CARRIER PROTEIN; SLC19A2 PROTEIN, HUMAN; SLC19A3 PROTEIN, HUMAN;

AMISH LETHAL MICROCEPHALY; ATAXIA; CONFERENCE PAPER; DEVELOPMENTAL DISORDER; DNA SYNTHESIS; DYSTONIA; EXTRAPYRAMIDAL SYNDROME; GENE EXPRESSION REGULATION; GENE SEQUENCE; GENOME; GENOME SEQUENCE; HUMAN; INTESTINE ABSORPTION; MAPLE SYRUP URINE DISEASE; MEGALOBLASTIC ANEMIA; MICROCEPHALY; MISSENSE MUTATION; MITOCHONDRION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RNA SYNTHESIS; THIAMINE DEFICIENCY; THIAMINE PYROPHOSPHOKINASE DEFICIENCY; THIAMINE RESPONSIVE ALPHA KETOACID DEHYDROGENASE DEFICIENCY; THIAMINE TRANSPORTER 1 DEFICIENCY; THIAMINE TRANSPORTER 2 DEFICIENCY; VITAMIN METABOLISM; VITAMIN SUPPLEMENTATION; ANIMAL; DEFICIENCY; GENETICS; METABOLISM; TRANSPORT AT THE CELLULAR LEVEL;

ANIMALS; BIOLOGICAL TRANSPORT; HUMANS; MAPLE SYRUP URINE DISEASE; MEMBRANE TRANSPORT PROTEINS; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; THIAMIN PYROPHOSPHOKINASE; THIAMINE; THIAMINE DEFICIENCY;

EID: 84904096876     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9712-9     Document Type: Conference Paper

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