Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 272-275

  Christensen, E ^a   Cezanne, I ^a   Kjaergaard S ^a   Horlyk H ^b   Faurholt Pedersen, V ^c   Vreken, P ^d   Van Kuilenburg, A B P ^d   Van Gennip, A H ^d  

^a University of Copenhagen   (Denmark)

^b HILLERØD HOSPITAL   (Denmark)

^c GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^d EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE;

CASE REPORT; CHILD; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE COURSE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPSY; FEMALE; FIBROBLAST; GENE MUTATION; HOMOZYGOTE; HUMAN; HUMAN CELL; INFANT; LYMPHOBLAST; MALE; MENTAL DEFICIENCY; PSYCHOMOTOR DEVELOPMENT;

CELL LINE, TRANSFORMED; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DIHYDROURACIL DEHYDROGENASE (NADP); FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; NETHERLANDS; OXIDOREDUCTASES; PENTOXYL; THYMINE; URACIL;

EID: 0031927149     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005328424310     Document Type: Conference Paper

References (7)

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