Results 201 to 210 of about 89,189 (328)

Intrahepatic Cholestasis

Journal of Pediatric Gastroenterology and Nutrition, 2002
openaire   +3 more sources

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells. [PDF]

Hum Genet
Buhl N, Pfister ED, Oliveira DV, Turetti F, Lurz E, Baumann U, Di Donato N, Illig T, Skawran B, Andersson ER, Mašek J, Stalke A.   +11 more
europepmc   +1 more source

Amyloidosis: A Rare Cause of Severe Cholestasis and Acute Liver Failure

, 2020
Hyun Jae Kim, Marcel Tomaszewski, Eric C. Lam, Wei Xiong, Sarvee Moosavi   +4 more
openalex   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

HEPATIC AND RENAL DISPOSITION OF PANCURONIUM AND GALLAMINE IN PATIENTS WITH EXTRAHEPATIC CHOLESTASIS

, 1981
P. Westra, G. A. Vermeer, A.R. DE LANGE, A. H. J. Scaf, Dirk K. F. Meijer, H. Wesseling   +5 more
openalex   +1 more source

Neurodevelopmental Outcome of Extremely Low Birth Weight Infants with Cholestasis at 12 and 24 Months

, 2022
Margarita Thanhaeuser, David Steyrl, Renate Fuiko, Sophia Brandstaetter, Christoph Binder, Alexandra Thajer, Mercedes Huber-Dangl, Nadja Haiden, Angelika Berger, Andreas Repa   +9 more
openalex   +1 more source

Population Pharmacokinetics and Pharmacokinetics‐Pharmacodynamics Analyses of Elafibranor to Support Dose Selection in Primary Biliary Cholangitis

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 5, May 2026.
ABSTRACT Elafibranor 80 mg/day is approved for second‐line primary biliary cholangitis (PBC) treatment. We present pharmacokinetic (PK) analyses of elafibranor and its metabolite, GFT1007, and pharmacokinetic‐pharmacodynamic (PKPD) analyses describing the relationship between their exposure and responses in alkaline phosphatase (ALP) and total ...
Qing Xi Ooi, Karl Brendel, Stijn van Beek, Jurij Aguiar Zdovc, Maddlie Bardol, Marion Dehez   +5 more
wiley   +1 more source

Intrahepatic cholestasis of pregnancy and offspring neurodevelopment: bile acid-mediated mechanisms and long-term neurodevelopmental outcomes. [PDF]

Arch Gynecol Obstet
Dai S, Zhao H, Xie Y, Chen Q, Chen Q, Li Y, Shan D, Tan X, Hu Y.   +8 more
europepmc   +1 more source

Pediatric liver transplantation with cyclosporine and steroids [PDF]

, 1984
Gartner, JC, Iwatsuki, S, Malatack, JJ, Shaw, BW, Starzl, TE, Urbach, AH, Zitelli, BJ   +6 more
core