Zobrazeno 1 - 10
of 139
pro vyhledávání: '"hereditary cholestasis"'
Publikováno v:
Exploration of Digestive Diseases, Vol 2, Iss 2, Pp 34-43 (2023)
Hereditary cholestasis comprises a broad spectrum of clinical phenotypes of varying severity. Severe forms such as progressive familial intrahepatic cholestasis (PFIC) mostly affect children with disease onset within their first years. Nevertheless,
Externí odkaz:
https://doaj.org/article/efb2b2f47c55463c8153afc6c666d7d9
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis
Autor:
Anjali Sharma, Ujjal Poddar, Shikha Agnihotry, Shubha R. Phadke, Surender K. Yachha, Rakesh Aggarwal
Publikováno v:
BMC Gastroenterology, Vol 18, Iss 1, Pp 1-10 (2018)
Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ATP8B1, ABCB11 or ABCB4 genes. Data on genetic variations in Indian patients with PFIC are lacking. Methods Coding and splice regions of the three gen
Externí odkaz:
https://doaj.org/article/34808eaca6e34c27b452aae1bcfee82a
Akademický článek
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Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis
Autor:
Shikha Agnihotry, Ujjal Poddar, Surender Kumar Yachha, Shubha R. Phadke, A P Sharma, Rakesh Aggarwal
Publikováno v:
BMC Gastroenterology, Vol 18, Iss 1, Pp 1-10 (2018)
BMC Gastroenterology
BMC Gastroenterology
Background Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ATP8B1, ABCB11 or ABCB4 genes. Data on genetic variations in Indian patients with PFIC are lacking. Methods Coding and splice regions of the three genes were s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b722897067435dc871746a771248a1
https://doi.org/10.1186/s12876-018-0835-6
https://doi.org/10.1186/s12876-018-0835-6
Autor:
Roderick H. J. Houwen, Franco Pagani, Stan F.J. van de Graaf, Ulrich Beuers, Wendy L. van der Woerd, Johanna Mulder
Publikováno v:
Hepatology (Baltimore, Md.), 61(4), 1382-1391. John Wiley and Sons Ltd
Hepatology, 61(4), 1382. John Wiley and Sons Ltd
Hepatology, 61(4), 1382. John Wiley and Sons Ltd
ATP8B1 deficiency is a severe autosomal recessive liver disease resulting from mutations in the ATP8B1 gene characterized by a continuous phenotypical spectrum from intermittent (benign recurrent intrahepatic cholestasis; BRIC) to progressive familia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f877e4ba764b83fed37eb8f121cfe0a5
https://doi.org/10.1002/hep.27620
https://doi.org/10.1002/hep.27620
Publikováno v:
Liver International. 23(5):315-322
Bile salts take part in an efficient enterohepatic circulation in which most of the secreted bile salts are reclaimed by absorption in the terminal ileum. In the liver, the sodium-dependent taurocholate transporter at the basolateral ( sinusoidal) me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::55cd67d94168ab8a5e525693eb82631c
https://hdl.handle.net/11370/51931224-ecff-453e-8c1f-c2b6e85c066c
https://hdl.handle.net/11370/51931224-ecff-453e-8c1f-c2b6e85c066c
Autor:
Renze Boverhof, Elizabeth Kaurs, Hilary Jericho, Peter F. Whitington, Alex S Knisely, Henkjan J. Verkade, Benjamin L. Shneider
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition, 60(3), 368-374. Lippincott Williams and Wilkins
Objectives: Partial external bile diversion (PEBD) is an established therapy for low-gamma-glutamyl transferase (GGT) progressive familial intrahepatic cholestasis (PFIC). This study sought to determine whether the dynamics of the cholic acid (CA) an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::709107c6f5c92750bffb20c69119883c
https://pubmed.ncbi.nlm.nih.gov/25383786
https://pubmed.ncbi.nlm.nih.gov/25383786
Autor:
Leo W. J. Klomp, Niels G. Venneman, Gerard P. van Berge Henegouwen, Janneke M. Stapelbroek, Thijs P. Schwartz, John Devlin, Roderick H. J. Houwen, A.S. Knisely, Karel J. van Erpecum, Carin M.J. van Nieuwkerk
Publikováno v:
Hepatology, 43(1), 51-53. Wiley
Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus without anatomical obstruction. Effective medical treatment is not available. We report complete and long-lasting disappearance of pruritus and nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6ee5e40ca12d57b6dbdd1eaf13c7d6
https://research.rug.nl/en/publications/5124905d-caa9-46f1-a402-74a6c0d5c162
https://research.rug.nl/en/publications/5124905d-caa9-46f1-a402-74a6c0d5c162
Publikováno v:
Deutsche medizinische wochenschrift. 128:107-109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01423::3ec4b72725101847b3507a494fb92d70
https://research.rug.nl/en/publications/37dbf728-2657-4d2c-bd6a-5aa8e29ebe50
https://research.rug.nl/en/publications/37dbf728-2657-4d2c-bd6a-5aa8e29ebe50
Publikováno v:
Deutsche medizinische wochenschrift. 128:S107-S109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::821cf590862d01a3d14a41b61556f566
https://hdl.handle.net/11370/37dbf728-2657-4d2c-bd6a-5aa8e29ebe50
https://hdl.handle.net/11370/37dbf728-2657-4d2c-bd6a-5aa8e29ebe50