Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Methylglutaconyl-coenzyme A hydratase"'
Publikováno v:
Journal of inherited metabolic disease. 15(3)
Patients presenting with increased urinary excretion of combined 3-methylglutaconic (3-MGC) and 3-methylglutaric (3-MGR) acids represent diverse clinical syndromes. Type I syndrome manifests retardation of speech development and deficient activity of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6596a70e989502ff407c9c032cf33780
https://pubmed.ncbi.nlm.nih.gov/1383605
https://pubmed.ncbi.nlm.nih.gov/1383605
Autor:
B. H. Robinson, K Narisawa, F. J. van Sprang, P. Divry, Sybe K. Wadman, Marinus Duran, Willy Lehnert, B. Cartigny, Lawrence Sweetman, K. S. Roth, Kenneth M. Gibson, William L. Nyhan, F. A. Beemer
Publikováno v:
European journal of pediatrics. 148(1)
3-Methylglutaconic aciduria has been found in two distinct syndromes. In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. In the other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3559631588185b74513073b405058cda
https://pubmed.ncbi.nlm.nih.gov/3197737
https://pubmed.ncbi.nlm.nih.gov/3197737