Results 231 to 240 of about 286,506 (354)

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan   +4 more
wiley   +1 more source

Artificial Intelligence Applications in Body MRI: Opportunities and Limitations

open access: yes
Journal of Magnetic Resonance Imaging, EarlyView.
Haresh Naringrekar, Abdullah Alturki
wiley   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

open access: yesJPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano   +12 more
wiley   +1 more source

Analysis of Risk Factors for Post-ERCP Pancreatitis in Patients with Cholangiocarcinoma. [PDF]

open access: yesDiagnostics (Basel)
Iizuka T   +11 more
europepmc   +1 more source

The Dynamic Evolution of Lipid Profiles Following Transjugular Intrahepatic Portosystemic Shunt in Patients With Liver Cirrhosis

open access: yesPortal Hypertension &Cirrhosis, EarlyView.
Cirrhosis is frequently accompanied by varying degrees of lipid profile abnormalities. This study confirms that these profiles are differentially affected by disease etiology and progressively worsen—with significant reductions in TC, HDL‐C, and LDL‐C—as liver disease severity increases. TIPS improves lipid profiles, particularly by increasing HDL‐C in
Jiamin Xu   +6 more
wiley   +1 more source

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