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Autor:
H. A. Veder, T. Vulsma, Ruud B.H. Schutgens, Bruce Middleton, W. H. H. Tegelaers, J. W. E. Oorthuys, J. F. v. d. Blij
Publikováno v:
European journal of pediatrics. 139(1)
A boy of 6.5 years and his 36-year-old father were found to excrete elevated amounts of urinary 2-methyl-3-hydroxybutyric acid and tiglylglycine, as is found in patients with a presumed β-ketothiolase deficiency. Psychomotor development of both pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ee08196c5644dd7e5dc25e43e83537c
https://pubmed.ncbi.nlm.nih.gov/7173255
https://pubmed.ncbi.nlm.nih.gov/7173255
