Results 171 to 180 of about 16,016 (250)
Abstract Objectives Shwachman‐Diamond syndrome (SDS) is an inherited bone marrow failure disorder, and its hepatic phenotype is poorly defined. Our objective was to systematically characterize the prevalence, features, and outcomes of liver injury in a multicenter SDS cohort. Methods Retrospective registry study of 171 patients with biallelic Shwachman‐
Jane Koo +16 more
wiley +1 more source
ABSTRACT ABCB4 translocates phospholipids (PL) into bile to buffer the toxicity of bile acids (BA) and free cholesterol (CHOL). While recessively inherited ABCB4 deficiency causes childhood Progressive Familial Intrahepatic Cholestasis type 3, haploinsufficiency has been linked to adult‐onset hepatobiliary diseases.
Eric L. Bell +6 more
wiley +1 more source
ABSTRACT Background and Aims Pruritus is a debilitating, under‐prioritized symptom of primary biliary cholangitis (PBC). This study assessed its impact on healthcare resource utilization (HCRU) and costs in the US. Methods A retrospective cohort study of individuals with PBC was conducted using Komodo's claims and laboratory data between September 1 ...
Robert G. Gish +8 more
wiley +1 more source
ABSTRACT Monoclonal immunoglobulin deposition disease (MIDD) is a plasma cell disorder where immunoglobulin light‐ and/or heavy‐chains accumulate in various organs. Hepatic involvement can be challenging to diagnose, as manifestations are protean and Congo red staining is negative.
Bella L. Liu +5 more
wiley +1 more source
P0203 ERYTHROCYTE POLYAMINE CONCENTRATION IS RELATED TO THE COURSE OF CHRONIC CHOLESTASIS [PDF]
Piotr Socha +6 more
openalex +1 more source
2024–2025 Routine review of SMFM documents
Pregnancy, Volume 2, Issue 4, July 2026.
wiley +1 more source
Organoids: From Bench to Bedside Applications
Organoids, as a groundbreaking biomedical research platform, utilize adult stem cells (ASCs), embryonic stem cells (ESCs), and induced pluripotent stem cells (iPSCs) as sources. By integrating specific growth and differentiation signals within an extracellular matrix (e.g., Matrigel), organoids guide cells to self‐assemble into three‐dimensional ...
Kelin Li +6 more
wiley +1 more source
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source

