Results 231 to 240 of about 116,137 (336)

DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report

open access: yesJPGN Reports, EarlyView.
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies.
Natalia Nedelkopoulou   +4 more
wiley   +1 more source

Lipase

open access: yesOleoscience
Kusum Chopra, Hiru Ranabhatt
openaire   +2 more sources

A rare case of pediatric autoimmune pancreatitis and autoimmune hepatitis in a patient with sickle cell disease

open access: yesJPGN Reports, EarlyView.
Abstract Concurrent pediatric autoimmune pancreatitis (AIP) and autoimmune hepatitis (AIH) are rarely reported, and no established pediatric‐specific guidelines are available to guide the diagnosis and management of these conditions in children. While AIP and AIH share an underlying autoimmune mechanism of injury, marked by chronic inflammatory changes
Sasha‐Jane Abi‐Aad   +4 more
wiley   +1 more source

Pediatric intestinal pseudo‐obstruction found in 3‐year‐old male with Rett‐related mutation of methyl‐CpG binding protein 2

open access: yesJPGN Reports, EarlyView.
Abstract A 3‐year‐old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo‐obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam.
Angela Tran, Namrata Patel‐Sanchez
wiley   +1 more source

Optimization of Parameters for the Production of Lipase from Pseudomonas sp. BUP6 by Solid State Fermentation

open access: diamond, 2014
Panichikkal Abdul Faisal   +7 more
openalex   +1 more source

Rapunzel syndrome: Trichobezoar‐induced pancreatitis unraveled

open access: yesJPGN Reports, EarlyView.
Abstract Trichobezoars are rare hair‐based intraluminal foreign bodies that may cause significant gastrointestinal complications, particularly when extending into the duodenum as in Rapunzel syndrome. We report the case of an 11‐year‐old girl with sensory processing difficulties and undiagnosed avoidant/restrictive food intake disorder (ARFID), who ...
Halen Scott   +4 more
wiley   +1 more source

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