Zobrazeno 1 - 10
of 1 035
pro vyhledávání: '"Gilbert′s syndrome"'
Publikováno v:
Saudi Journal for Health Sciences, Vol 13, Iss 2, Pp 165-169 (2024)
Jaundice is a well-known condition that is commonly encountered during daily clinical practice. However, recurrent episodes of jaundice in which the unconjugated bilirubin is predominant without evidence of hemolysis have very restricted differential
Externí odkaz:
https://doaj.org/article/a29538ab1aa648b2be4a2c3866d713d7
Publikováno v:
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Liver-related side effects are a known complication of treatment with elexacaftor/tezacaftor/ivacaftor (ETI) for cystic fibrosis (CF). Gilbert’s syndrome is caused by a genetic mutation that reduces activity of the enzyme UDP glucuronosylt
Externí odkaz:
https://doaj.org/article/e7f10fbf6acf4c76954ab790ee4ad480
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
Background: Congenital dyserythropoietic anemia Ⅱ (CDA Ⅱ) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA Ⅱ is often misdiagnosed as a more common type of clinically related anemia, or it remains und
Externí odkaz:
https://doaj.org/article/b95f93a6f278486e9a4518c5a3973d90
Autor:
Katarzyna Beutler, Jędrzej Lewandowski
Publikováno v:
Journal of Education, Health and Sport, Vol 63 (2024)
Gilbert’s syndrome is the most common inherited jaundice worldwide. It affects 5-10% of the population. It is caused by a mutation of the UGT1A1 gene, which results in impaired bilirubin metabolism. It is a benign disease and does not affect the li
Externí odkaz:
https://doaj.org/article/ccd05664cab942f1808ed342d492a5b1
Autor:
Eva González-Iglesias, Dolores Ochoa, Manuel Román, Paula Soria-Chacartegui, Samuel Martín-Vilchez, Marcos Navares-Gómez, Alejandro De Miguel, Pablo Zubiaur, Andrea Rodríguez-Lopez, Francisco Abad-Santos, Jesús Novalbos
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
Introduction: Bioequivalence clinical trials are conducted in healthy volunteers whose blood tests should be within normal limits; individuals with Gilbert syndrome (GS) are excluded from these studies on suspicion of any liver disease, even if the c
Externí odkaz:
https://doaj.org/article/ad0b4fc0d92b4e93b7c445ca54334d8f
Publikováno v:
Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-7 (2023)
Abstract Background Jaundice in the newborn period is a very common entity; rare inherited causes are often forgotten. Persistent unconjugated hyperbilirubinemia in the intermediate levels with non-hemolytic features must prompt the necessity for eva
Externí odkaz:
https://doaj.org/article/eadc924615dc439ead88ed9964fc5f74
Publikováno v:
Asian Journal of Surgery, Vol 46, Iss 8, Pp 3139-3141 (2023)
Externí odkaz:
https://doaj.org/article/a5a9fa109654467c8030f3f7c9ec5aa6
Autor:
Dominika Miazga, Alicja Maziarczyk, Laura Surdacka, Monika Blicharz, Diana Bartosik-Zielińska
Publikováno v:
Journal of Education, Health and Sport, Vol 14, Iss 1 (2023)
Introduction and purpose Gilbert's syndrome is a condition caused by a mutation in the gene responsible for the enzyme UDP-glucuronosyltransferase 1A1, which conjugates bilirubin in hepatocytes. Its less efficient functioning results in disorder of b
Externí odkaz:
https://doaj.org/article/7ae4cd85c9ff495d9fd9857ba21d183b
Akademický článek
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Publikováno v:
Kaohsiung Journal of Medical Sciences, Vol 38, Iss 8, Pp 729-738 (2022)
Abstract In the Asian general population, at least six single‐nucleotide variants (SNVs) in the UDP‐glucuronosyltransferase (UGT) 1A1 gene have been identified: −3279T>G, −53A(TA)6TAA>A(TA)7TAA, 211G>A, 686C>A, 1091C>T, and 1456T>G. Each of t
Externí odkaz:
https://doaj.org/article/fde63ed263b24ee3894b256cfae5c202