52 citations
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March 2011 in “Clinical Gastroenterology and Hepatology” This article reviews current therapies for exocrine pancreatic insufficiency in chronic pancreatitis, highlighting the challenges in achieving optimal enzyme dosing and the potential need for treatment even in asymptomatic patients.
February 2026 in “Pediatrics in Review” This case report describes an infant with congenital hyperinsulinism linked to a genetic mutation in the ABCC8 gene, illustrating challenges in managing persistent hypoglycemia despite medical interventions, leading to a near-total pancreatectomy.
1 citations
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June 2019 in “Current developments in nutrition” This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” This case study reports that an infant with maple syrup urine disease developed acrodermatitis dysmetabolica due to low isoleucine levels, and increasing the isoleucine dose improved the condition.
August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.