Results 181 to 190 of about 57,235 (275)

Gastrointestinal strictures in a pediatric patient with Satoyoshi syndrome

open access: yesJPGN Reports, Volume 7, Issue 2, Page 247-251, May 2026.
Abstract We present a novel case of gastrointestinal strictures in a young girl with Satoyoshi syndrome (SS), highlighting multi‐system features of alopecia universalis, painful muscle cramps with dystonia, aberrant growth velocity, and skeletal abnormalities.
Katherine (Tusia) Pohoreski   +5 more
wiley   +1 more source

CytoBead ANA 2 assay - a novel method for the detection of antinuclear antibodies. [PDF]

open access: yesSci Rep
Roei T   +15 more
europepmc   +1 more source

New roles for the major human 3\u27–5\u27 exonuclease TREX1 in human disease [PDF]

open access: yes, 2008
Atkinson, John P   +6 more
core   +1 more source

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

Antinuclear antibodies in early multiple sclerosis reflect systemic lupus erythematosus shared risk factors. [PDF]

open access: yesSci Rep
Corsten CEA   +6 more
europepmc   +1 more source

GPIHBP1 Autoantibody‐Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report two young children with severe hypertriglyceridemia lacking monogenic causes. Both were ANA‐positive, with confirmed anti‐GPIHBP1 antibodies. Immunosuppressive therapy (hydroxychloroquine ± prednisolone) effectively reduced triglycerides. GPIHBP1 autoantibody‐related hypertriglyceridemia is an important pediatric cause, requiring accurate ...
Rai‐Hseng Hsu   +4 more
wiley   +1 more source

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