Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Janice E. Finkelstein"'
Publikováno v:
Genomics. 7:167-172
Ornithine transcarbamylase (ornithine carbamoyl-transferase, EC 2.1.3.3) deficiency is an X-linked inborn error of metabolism with considerable phenotypic variability in affected males. Using a combination of the polymerase chain reaction and denatur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17446d1ff6038ef262ae723eb0eabc8e
https://doi.org/10.1016/0888-7543(90)90537-5
https://doi.org/10.1016/0888-7543(90)90537-5
Autor:
Cornelis Jakobs, Daniel L. Bluestone, Ernst Christensen, Allie Moosa, Cesar Santos, Joyce A. Kobori, Daniel Rabier, F Aksu, Dietrich Matern, Klaus Raab, Pierre Beauvais, Brigitte Vollmer, Todd F. Barron, Willy Lehnert, Janice E. Finkelstein, Hans Peter Weber, Gerhard Hammersen, K. Michael Gibson, Brian Fowler, Richard Umansky, Jan A.J.M. Bakkeren, Eva Rossier, Michael Clarke, A. Kimberly Iafolla, Oebele F. Brouwer, Fons J. M. Gabreëls
Publikováno v:
Pediatrics (Evanston), 99, 567-574
Pediatrics (Evanston), 99, pp. 567-574
Karolinska Institutet
Pediatrics (Evanston), 99, 4, pp. 567-574
Pediatrics (Evanston), 99, pp. 567-574
Karolinska Institutet
Pediatrics (Evanston), 99, 4, pp. 567-574
Objectives. To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cf8205fcec461aac75b58b762ec3f7
http://hdl.handle.net/2066/25009
http://hdl.handle.net/2066/25009
Publikováno v:
The New England journal of medicine. 322(23)
Ornithine carbamoyltransferase is an X-linked mitochondrial enzyme expressed in hepatocytes and enterocytes. A deficiency of this enzyme results in central nervous system dysfunction, which may be fatal in newborn boys. Milder forms are seen in older
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e427f932a2904b13673e557adf703885
https://pubmed.ncbi.nlm.nih.gov/2342527
https://pubmed.ncbi.nlm.nih.gov/2342527