Results 161 to 170 of about 213,728 (218)

A cross-sectional analysis of the quality and reliability of Wilson disease videos on Bilibili, Douyin, and Kuaishou. [PDF]

Sci Rep
Xu Z, Liu Y, Ma Z, Wen S, Chen H, Huang J, Li L, Lin K, He J.   +8 more
europepmc   +1 more source

Fecal microRNA signatures as non‐invasive diagnostic and prognostic markers of pediatric inflammatory bowel diseases

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives The identification of novel noninvasive diagnostic and prognostic biomarkers for pediatric inflammatory bowel disease (PIBD), including pediatric Crohn's disease (pCD) and ulcerative colitis (pUC), is crucial for improving therapeutic outcomes.
Tereza Pinkasova, Tereza Deissova, Matej Hrunka, Martina Ambrozova, Dagmar Al Tukmachi, Robin Jugas, Lenka Radova, Julia Bohosova, Tana Machackova, Leos Kren, Ondrej Slaby, Petr Jabandziev   +11 more
wiley   +1 more source

Development and validation of a machine learning model for predicting hypersplenism in Wilson disease patients. [PDF]

Front Med (Lausanne)
Xuan Q, Shi X, Jin L, Hua D, Sun L, Yang W, Wang H.   +6 more
europepmc   +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

JPGN 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, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

A rare case of Wilson disease associated with keratoconus

Indian Journal of Ophthalmology. Case Reports
Arathy S Menon, O U Mallika
doaj   +1 more source

Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing. [PDF]

JHEP Rep
Lildballe DL, Grosen A, Ott P, Mohr I, Mariño Z, Coskun AK, To U, Hahn S, Weiss KH, Schilsky ML, Sandahl TD.   +10 more
europepmc   +1 more source

Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent

JPGN Reports, EarlyView.
Abstract Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13‐year‐old female with chronic abdominal pain, short stature, and persistent mild transaminitis.
Alexandra Hurlock, Melissa Lah, Hannah Sue Hyaduck, Jean P. Molleston, Chaowapong Jarasvaraparn   +4 more
wiley   +1 more source

Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study. [PDF]

Neurol Genet
Lin J, Wang YL, Qu Y, Dong S, Fang Y, Chen R, Ding Y, Lin W, Chen J, Cai N, Wang N, Chen WJ, Lin Y, Wang Z.   +13 more
europepmc   +1 more source

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome

JPGN Reports, EarlyView.
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher, Kathryn S. Czepiel, Matthew B. Neu, Andrea Carolina Cortes Fernandez, L. Walden Browne, Annie D. Niehaus, Roberto Gugig   +6 more
wiley   +1 more source