Results 201 to 210 of about 40,669 (305)

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

open access: yesJPGN Reports, Volume 7, Issue 2, Page 362-365, May 2026.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja   +6 more
wiley   +1 more source

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Severe congenital neutropenia can be caused by rare SEC61A1 variants. We report a child with SCN showing granulocytic maturation arrest and abnormal immunophenotype, carrying a novel de novo SEC61A1 p.Trp379Arg variant, expanding the phenotypic and genetic spectrum of SEC61A1‐associated SCN.
Zixuan Wang   +4 more
wiley   +1 more source

The prevalence and impact of thrombocytopenia, anaemia and leucopenia on sustained virological response in patients receiving hepatitis C therapy: evidence from a large ‘real world’ cohort [PDF]

open access: yes, 2016
Allen, Samuel   +12 more
core   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha   +13 more
wiley   +1 more source

Experience of the University of Pittsburgh, Pittsburgh, Pennsylvnaia, USA [PDF]

open access: yes, 1989
Carroll, PB   +4 more
core  

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