Results 181 to 190 of about 176,987 (331)
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Endoscopically demonstrable esophageal changes after Helicobacter pylori eradication in patients with gastric disease [PDF]
, 2001 Shinichi Yachida +10 more
openalex +1 more source
Esophageal Involvement of Behcet’s Disease
The Korean Journal of Gastroenterology, 2020 Jae Yong Park +2 more
openaire +5 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello +7 more
wiley +1 more source
Janus kinase 2 inhibition by pacritinib as potential therapeutic target for liver fibrosis
Hepatology, EarlyView., 2022 Diagram of the activation of the profibrotic and procontractile Janus kinase 2 (JAK2)/Ras homolog family member A/Rho‐kinase pathway and the inhibition of phosphorylated JAK2 by pacritinib to inhibit hepatic stellate cell activity. Abstract Background and Aims Janus kinase 2 (JAK2) signaling is increased in human and experimental liver fibrosis with ...
Sandra Torres +21 more
wiley +1 more source
Global burden of esophageal diseases: a comprehensive analysis of disease trends and risk factors from 1990 to 2021. [PDF]
BMC GastroenterolWei Y +5 more
europepmc +1 more source
Endoscopic Surgery of the Broncho-esophageal Diseases. Endoscopic Surgery for Esophageal Diseases.
, 1996 Mitsuo Endo
openalex +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone +13 more
wiley +1 more source
Hepatology, EarlyView., 2022 Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel +93 more
wiley +1 more source