Results 231 to 240 of about 82,056 (314)

Orthotopic liver transplantation: Indications and results [PDF]

open access: yes, 1995
Aldrighetti, LA   +3 more
core  

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

open access: yesAmerican Journal of Hematology, Volume 101, Issue 4, Page 784-793, April 2026.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova   +10 more
wiley   +1 more source

Consensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis. [PDF]

open access: yesAnn Gastroenterol
Dalekos GN   +7 more
europepmc   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 971-977, April 2026.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

Quality of Life in Patients With Variant Syndromes of Autoimmune Liver Diseases-A Cross-Sectional Multicentre Study. [PDF]

open access: yesLiver Int
Uhlenbusch N   +34 more
europepmc   +1 more source

Influence of Gut Microbiota on Response to Immune Check Point Inhibitors in MASLD Patients With HCC: Unraveling the Connection

open access: yesCancer Medicine, Volume 15, Issue 4, April 2026.
ABSTRACT Immune checkpoint inhibitors (ICIs) have emerged as a promising treatment for various cancers, including advanced hepatocellular carcinoma (HCC). However, a significant proportion of patients with HCC, particularly those with metabolic dysfunction‐associated liver disease (MASLD), exhibit resistance to ICI therapy.
Mazen Elsheikh   +9 more
wiley   +1 more source

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