Zobrazeno 1 - 10
of 44
pro vyhledávání: '"UGT1 gene"'
Autor:
Cristina Bellarosa, Claudio Tiribelli
Publikováno v:
Textbook of Clinical Gastroenterology and Hepatology, Second Edition
The inherited disorders of bilirubin metabolism are syndromes where the cause of hyperbilirubinemia is related to a genetic disorder of bilirubin transport and metabolism. They may be classified as unconjugated and conjugated hyperbilirubinemias: the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4920aa563182889b57f40d3fb92b3611
https://hdl.handle.net/11368/2656313
https://hdl.handle.net/11368/2656313
Publikováno v:
European Journal of Pediatrics. 158:89-94
Crigler-Najjar syndrome (CNS) results from a mutation in one of the five exons of the gene coding for the enzyme bilirubin-UDP-glucuronosyltransferase by exon 1*1 and exons 2-5 of the UDP-glucuronosyltransferase 1 locus, the bilirubin glucuronidating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01423::32552bb86c3ba2fc4e21dc96301ced1c
https://research.rug.nl/en/publications/cb61d856-09c2-4906-96e4-7ff99bd05e36
https://research.rug.nl/en/publications/cb61d856-09c2-4906-96e4-7ff99bd05e36
Publikováno v:
European Journal of Pediatrics. 158:S89-S94
Crigler-Najjar syndrome (CNS) results from a mutation in one of the five exons of the gene coding for the enzyme bilirubin-UDP-glucuronosyltransferase by exon 1*1 and exons 2-5 of the UDP-glucuronosyltransferase 1 locus, the bilirubin glucuronidating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::389dea456ba3408d2b98d3ac1502e3cf
https://hdl.handle.net/11370/cb61d856-09c2-4906-96e4-7ff99bd05e36
https://hdl.handle.net/11370/cb61d856-09c2-4906-96e4-7ff99bd05e36
Publikováno v:
Hepatology. 24(2):311-315
This study represents a multicenter survey on the management of patients with Crigler-Najjar syndrome (CNS) type 1. The aim of the survey was to find guiding principles for physicians in the care of these patients, Fifty-seven patients were included,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::44e33ae4481e564fd6964aba43b5fff8
https://hdl.handle.net/11370/0fd0be6e-1c5d-4427-a542-578f19f58986
https://hdl.handle.net/11370/0fd0be6e-1c5d-4427-a542-578f19f58986
Autor:
C. Bakker, R. P. J. Oude Elferink, Peter L.M. Jansen, Jayanta Roy Chowdhury, Namita Roy Chowdhury, Piter J. Bosma, B. Goldhoorn, Jurgen Seppen
Publikováno v:
The Journal of Biological Chemistry, 269(27), 17960-17964. AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
Crigler-Najjar syndrome type I (CN-I) is caused by an inherited absence of UDP-glucuronosyltransferase activity toward bilirubin (B-UGT), resulting in severe non-hemolytic unconjugated hyperbilirubinemia. Based on the expression of cDNAs in COS cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27df29d26609c01ea6491d94746f03fe
https://doi.org/10.1016/s0021-9258(17)32403-1
https://doi.org/10.1016/s0021-9258(17)32403-1
Autor:
Jansen, PLM
Publikováno v:
European Journal of Pediatrics, 158, S89-S94. SPRINGER
Crigler-Najjar syndrome (CNS) results from a mutation in one of the five exons of the gene coding for the enzyme bilirubin-UDP-glucuronosyltransferase by exon 1*1 and exons 2-5 of the UDP-glucuronosyltransferase 1 locus, the bilirubin glucuronidating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::7ea05b1c06b77ab3d9c8cd49d23b1c62
https://research.rug.nl/en/publications/cb61d856-09c2-4906-96e4-7ff99bd05e36
https://research.rug.nl/en/publications/cb61d856-09c2-4906-96e4-7ff99bd05e36
Autor:
vanderVeere, CN, Sinaasappel, M, McDonagh, AF, Rosenthal, P, Labrune, P, Odievre, M, Fevery, J, Otte, JB, McClean, P, Burk, G, Masakowski, [No Value], Sperl, W, Mowat, AP, Vergani, CM, Wilson, JP, Shepherd, R, Jansen, PLM
Publikováno v:
Hepatology, 24(2), 311-315. Wiley
This study represents a multicenter survey on the management of patients with Crigler-Najjar syndrome (CNS) type 1. The aim of the survey was to find guiding principles for physicians in the care of these patients, Fifty-seven patients were included,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::8eecdf8de0e43aceb62f3b4b3dc2f2ad
https://research.rug.nl/en/publications/0fd0be6e-1c5d-4427-a542-578f19f58986
https://research.rug.nl/en/publications/0fd0be6e-1c5d-4427-a542-578f19f58986
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