Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Human Genetics

Volumn 104, Issue 1, 1999, Pages 1-9

  Van Kuilenburg, A B P ^a,m   Vreken, P ^a   Abeling, N G G M ^a   Bakker, H D ^a   Meinsma, R ^a   Van Lenthe, H ^a   De Abreu, R A ^b   Smeitink, J A M ^b   Kayserili, H ^c   Apak, M Y ^c   Christensen, E ^d   Holopainen, I ^e   Pulkki, K ^e   Riva, D ^f   Botteon, G ^f   Holme, E ^g   Tulinius, M ^g   Kleijer, W J ^h   Beemer, F A ⁱ   Duran, M ⁱ   Niezen Koning, K E ^j   Smit, G P A ^j   Jakobs, C ^k   Smit, L M E ^k   Moog, U ^l   Spaapen, L J M ^l   Van Gennip, A H ^a   more..

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ISTANBUL UNIVERSITY   (Turkey)

^d Illinois   (Denmark)

^e TURKU UNIVERSITY HOSPITAL   (Finland)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g UNIVERSITY OF GOTHENBURG   (Sweden)

^h ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j UNIVERSITY OF GRONINGEN   (Netherlands)

^k VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^l MAASTRICHT UNIVERSITY   (Netherlands)

^m ACADEMIC MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BETA ALANINE; DIHYDROPYRIMIDINE DEHYDROGENASE; THYMINE; URACIL;

ADOLESCENT; ARTICLE; CATABOLISM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONVULSION; ENZYME DEFICIENCY; ENZYME KINETICS; ENZYME STRUCTURE; FAMILY STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE STRUCTURE; GENOTYPE; HUMAN; INFANT; MENTAL DEFICIENCY; MISSENSE MUTATION; MOTOR RETARDATION; ONSET AGE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; URINE LEVEL;

EID: 0032974922     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00008711     Document Type: Article

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