Results 151 to 160 of about 113,305 (364)

Intrahepatic cholestasis in the newborn. [PDF]

, 1968
Leonard A. Haas
openalex   +1 more source

Genes and cholestasis [PDF]

Hepatology, 2001
Michael Müller, Ekkehard Sturm, Peter L.M. Jansen   +2 more
openaire   +3 more sources

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Genetics in Medicine, 2018
Biallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure.
Dominic Lenz, P. Mcclean, A. Kansu, P. Bonnen, G. Ranucci, C. Thiel, B. Straub, I. Harting, B. Alhaddad, Bianca Dimitrov, U. Kotzaeridou, Daniel Wenning, R. Iorio, R. Himes, Z. Kuloğlu, E. Blakely, Robert W. Taylor, T. Meitinger, S. Kölker, H. Prokisch, G. Hoffmann, T. Haack, C. Staufner   +22 more
semanticscholar   +1 more source

A rare case of pediatric autoimmune pancreatitis and autoimmune hepatitis in a patient with sickle cell disease

JPGN Reports, EarlyView.
Abstract Concurrent pediatric autoimmune pancreatitis (AIP) and autoimmune hepatitis (AIH) are rarely reported, and no established pediatric‐specific guidelines are available to guide the diagnosis and management of these conditions in children. While AIP and AIH share an underlying autoimmune mechanism of injury, marked by chronic inflammatory changes
Sasha‐Jane Abi‐Aad, Michelle Edward, David Germain, Rene Gomez‐Esquivel, Racha Khalaf   +4 more
wiley   +1 more source

Stauffer’s Syndrome in Patient with Metastatic Prostate Cancer

Case Reports in Urology, 2019
Cholestasis is a symptom that can be present in many conditions, such as bile duct obstruction by malignant mases, obstruction by gallstone, acute and chronic viral hepatitis, and autoimmune disorders, such as primary biliary and sclerosing cholangitis ...
Andris Romašovs, Aldis Puķītis, Viktorija Mokricka, Elina Frolova   +3 more
doaj   +1 more source

Studies of Y and Z, two hepatic cytoplasmic organic anion-binding proteins: effect of drugs, chemicals, hormones, and cholestasis [PDF]

, 1971
Humberto Reyes, A J Levi, Zenaida Gatmaitan, Irwin M. Arias   +3 more
openalex   +1 more source

Gene polymorphisms in primary biliary cirrhosis: association with the disease and hepatic osteopathy [PDF]

, 2007
Genetic factors have been implicated in the pathogenesis of osteoporosis, a common disorder in primary biliary cirrhosis (PBC). Estrogen receptor-alpha gene (ER- ), vitamin-D-receptor gene (VDR) and IL-1-receptor-antagonist gene (IL-1RN) are all ...
Bajnok, Éva, Ferenci, Péter, Lakatos, Péter, Lakatos, Péter László, Szalay, Ferenc, Takács, István, Willheim-Polli, Claudia   +6 more
core  

P4‐ATPases as Phospholipid Flippases: From Membrane Dynamics to Human Disorders

Medicine Bulletin, EarlyView.
ABSTRACT P4‐ATPases (P4 subfamily of P‐type ATPases) flippase complex includes an α‐subunit responsible for catalysis and a supporting β‐subunit, which consumes energy by catalyzing the hydrolysis of ATP, thereby facilitating the translocation of aminophospholipids from the outer to the inner leaflet of cellular membranes to maintain the asymmetric ...
Guangyi Chen, Yeming Yang, Xianjun Zhu
wiley   +1 more source

Primary human intestinal organoids with biallelic UNC45A variants suggest role of cystic fibrosis transmembrane conductance regulator in pathogenesis of UNC45A‐related intestinal disorder

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
April Rose Foster, Natasha G., Rebecca Harris, Matthias Zilbauer, Alexander Ross   +4 more
wiley   +1 more source

453 CHOLESTASIS IN THE CEREBRO-HEPATO-RENAL (CHR) SYNDROME: BILE ACID AND MITOCHONDRIAL ABNORMALITIES [PDF]

, 1978
Richard K. Mathis, Ira T. Lott, Patricia A. Szczepanik, John B. Watkins   +3 more
openalex   +1 more source