Results 181 to 190 of about 5,188,381 (253)

Evaluation of Ultrasound-Based Parameters for the Assessment of Hepatic Steatosis and Fibrosis in Hungarian Wilson's Disease Patients. [PDF]

Diagnostics (Basel)
Folhoffer A, Zsély B, Krolopp A, Németh D, Tóth T, Lőrinczi C, Hagymási K, Egresi A, Bánhidi C, Halász J, Csongrády B, Budai BK, Stollmayer R, Jakab Z, Laki A, Győri G, Rónaszéki AD, Maurovich-Horvát P, Szalay F, Kaposi PN, Takács I.   +20 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

A cross-sectional assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children. [PDF]

Medicine (Baltimore)
Yaldany M, Abboud F, Haddad S, Madanieh S, Mahmod J, Alhazaimeh M, Atoom G.   +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

Post-marketing safety signals of Wilson's disease therapies: evidence from FAERS and VigiBase. [PDF]

Orphanet J Rare Dis
Tezel-Yalçın H, Yalçın N, Allegaert K, Erkekoğlu P.   +3 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

Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis. [PDF]

Diagnostics (Basel)
Antos A, Gromadzka G, Bembenek JP, Litwin T.   +3 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

Emotion-tremor coupling in Wilson's disease: EEG microstate C as a marker of salience network dysregulation. [PDF]

Orphanet J Rare Dis
Zhang PZ, Wang M, Wen X, Li P, Jin P, Ma XF, Lin K, Tong GA, Wang GQ, Han YZ.   +9 more
europepmc   +1 more source