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Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation
Author(s) -
Van Kuilenburg A. B. P.,
Vreken P.,
Riva D.,
Botteon G.,
Abeling N. G. G. M.,
Bakker H. D.,
Van Gennip A. H.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005470524203
Subject(s) - medical genetics , medicine , pediatrics , university hospital , family medicine , genetics , biology , gene