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Deoxyribose‐5‐phosphate aldolase deficiency — A harmless inborn error of metabolism
Author(s) -
Chappel A.,
Scholem R. D.,
Brown G. K.,
Truscott R. M.,
Cotton R. G. H.,
Haan E. A.,
Danks D. M.
Publication year - 1983
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 - 10.1007/bf01800736
Subject(s) - aldolase a , deoxyribose , inborn error of metabolism , urine , reversion , biochemistry , medicine , endocrinology , chemistry , enzyme , phenotype , nucleic acid , gene
Evidence is presented that a deficiency of 2‐deoxyribose‐5‐phosphate aldolase was present in a previously described patient who excreted metabolites of 2‐deoxyribose in his urine. Minor clinical abnormalities present did not appear related to this disorder.