Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase

Journal of Inherited Metabolic Disease

Volumn 30, Issue 2, 2007, Pages 248-255

  Christensen, Mette ^a   Duno, M ^a   Lund, A M ^a   Skovby, F ^a   Christensen, E ^a  

^a Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYKYNURENINE; ALANINE; GLYCINE; KYNURENINASE; KYNURENINE; NICOTINIC ACID; THREONINE; XANTHURENIC ACID;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CASE REPORT; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INBORN ERROR OF METABOLISM; MALE; MUTATIONAL ANALYSIS; NICOTINIC ACID DEFICIENCY; PATHOGENESIS; PRESCHOOL CHILD; SIBLING; SOMALIA; SYMPTOM; URINALYSIS; URINARY EXCRETION; XANTHURENIC ACID URINE LEVEL;

ADENINE; ALANINE; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SUBSTITUTION; CHILD; DNA MUTATIONAL ANALYSIS; GENOTYPE; GUANINE; HOMOZYGOTE; HUMANS; HYDROLASES; MALE; MUTATION; PEDIGREE; THREONINE; XANTHURENATES;

EID: 33947622049     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0396-2     Document Type: Article

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