Zobrazeno 1 - 10
of 325
pro vyhledávání: '"F. Broly"'
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)
Abstract Background Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal recessive transmission,
Externí odkaz:
https://doaj.org/article/a9ad10d6713d40e2927940e39a912ee8
Autor:
Dr. A. Toure, M. Cabral, A. Niang, C. Diop, A. Garat, L. Humbert, M. Fall, A. Diouf, F. Broly, M. Lhermitte, D. Allorge
Publikováno v:
Toxicology Reports, Vol 3, Iss , Pp 826-831 (2016)
Isoniazid (INH), recommended by WHO (World Health Organization) in the treatment of tuberculosis (TB), is metabolized primarily by the genetically polymorphic N-acetyltransferase 2 (NAT2) enzyme. The human population is divided into three different p
Externí odkaz:
https://doaj.org/article/9299735a72704b22a0baa3fd3131ea20
Background: Congenital Disorders of Glycosylation (CDG) are a large group of inherited inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized is also the most common, PMM2-CDG, with an autosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f5dfb4aadb121307c2ff153eb9a4e84
https://doi.org/10.21203/rs.3.rs-1231444/v1
https://doi.org/10.21203/rs.3.rs-1231444/v1
Publikováno v:
Archives de Pédiatrie. 22:1288-1291
Type 1 xanthinuria is a rare cause of urolithiasis due to xanthine dehydrogenase deficiency. Pediatric cases are exceptional. Through the genetic analysis of two cases, we discovered three mutations responsible for a loss of enzyme activity. The firs
Autor:
Mathurin Fumery, G. Savoye, Dominique Turck, Delphine Ley, F. Broly, Jean-Louis Dupas, Corinne Gower-Rousseau, Hélène Sarter, Francis Vasseur
Publikováno v:
Journal of Crohn's and Colitis. 11:S467-S468
Autor:
Aurélie Crunelle-Thibaut, Joanna Bourgine, F. Broly, Ingrid Billaut-Laden, Jean-Frederic Colombel, Anne Garat, Delphine Allorge, Jean-Marc Lo-Guidice
Publikováno v:
Pharmacogenetics and Genomics. 21:313-324
Adverse effects of thiopurine drugs occur in 15-28% of patients and the majority is not explained by thiopurine-S-methyltransferase deficiency. Furthermore, approximately 9% of patients with inflammatory bowel disease are resistant to azathioprine th
Publikováno v:
Revue Neurologique. 167:541-544
Resume Introduction Les traitements par L-carnitine sont habituellement bien toleres, hormis quelques cas de diarrhees dose-dependantes. Observation Nous rapportons le cas d’une mauvaise odeur corporelle s’etant manifestee sous L-carnitine et aya
Akademický článek
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Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 22(12)
Type 1 xanthinuria is a rare cause of urolithiasis due to xanthine dehydrogenase deficiency. Pediatric cases are exceptional. Through the genetic analysis of two cases, we discovered three mutations responsible for a loss of enzyme activity. The firs
Autor:
Dany Chevalier, Florence Migot-Nabias, A. Kenani, F. Broly, Jean-Marc Lo-Guidice, Michel Lhermitte, Bruno Lacarelle, M. Imbenotte, Delphine Allorge, Sylvie Quaranta
Publikováno v:
Xenobiotica. 36:1191-1200
The genetic polymorphism affecting the CYP3A5 enzyme is responsible for interindividual and interethnic variability in the metabolism of CYP3A5 substrates. The full extent of the CYP3A5 genetic polymorphism was analysed in French Caucasian, Gabonese