Results 221 to 230 of about 85,064 (291)

Successful treatment of vertically acquired Hepatitis C in a child using direct-acting antiviral therapy administered via gastrojejunal tube: A case report. [PDF]

JPGN Rep
Chen C, Gibson L, Squires J.
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Whole-exome sequencing-centered genetic evaluation for early-onset obesity in Chinese children: a retrospective single-center cohort. [PDF]

Transl Pediatr
Chen S, Zhang J, Ge L, Li Z, Wang L, Cheng X.   +5 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Assessment of hepatic fibrosis in Egyptian children and adolescents with beta thalassemia major: a single center study. [PDF]

Eur J Pediatr
Elhady MA, Kaddah M, Marzouk A, Mogahed EA, Yassin NA.   +4 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Performance of low-cost noninvasive blood markers of liver cirrhosis in adults with chronic hepatitis B infection with and without comorbid alcohol use in Zambia: A cross-sectional hospital-based study. [PDF]

Medicine (Baltimore)
Mpisa S, Kahere M, Syabbalo E, Kanunga A, Vinikoor M, Sinkala E, Sinkala E.   +6 more
europepmc   +1 more source

Dengue Viral Infection and Associated Liver Disease. [PDF]

J Clin Transl Hepatol
Da Silva Santiago M, Wu GY.
europepmc   +1 more source

Time-dependent pattern of liver injury biomarkers in neonates with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia. [PDF]

Eur J Pediatr
Warlop J, Borloo N, Muniraman H, Michniewicz B, Kovacs K, Annaert P, Kayki G, Clarke P, Szpecht D, Szabo M, Fieuws S, Yalcin N, Smits A, Allegaert K.   +13 more
europepmc   +1 more source

Threshold-based association between controlled attenuation parameter-defined hepatic steatosis and hepatectomy-associated ischemia-reperfusion injury: A retrospective cohort study. [PDF]

J Int Med Res
Gao Y, Zhang Y, Xu J, Xia J, Shao W, Zhou H.   +5 more
europepmc   +1 more source