Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

American Journal of Human Genetics

Volumn 69, Issue 2, 2001, Pages 269-277

  Bonafé, Luisa ^a   Thöny, Beat ^a   Penzien, Johann M ^b   Czarnecki, Barbara ^c   Blau, Nenad ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Ch Gesell F Chemische M   (Germany)

^c Children s Hospital Königsborn   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; ALDEHYDE REDUCTASE; CARBONYL REDUCTASE; DIHYDROFOLATE REDUCTASE; DOPAMINE; HOMOVANILLIC ACID; MONOAMINE; NEUROTRANSMITTER; PTERIN DERIVATIVE; SEPIAPTERIN REDUCTASE; SEROTONIN; TETRAHYDROBIOPTERIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DYSTONIA; ENZYME DEFICIENCY; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERPHENYLALANINEMIA; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SKIN FIBROBLAST;

EID: 0034928621     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321970     Document Type: Article

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