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Body composition and leptin were studied in 13 young, still underweight and 10 older overweight children with Prader-Labhart-Willi syndrome. Not only the older overweight children but also the young underweight children had elevated skinfold standard deviation scores for body mass index and...
Objectives: To describe the patterns of growth, nutritional status, body composition, and resting energy expenditure (REE) in prepubertal children with Alagille syndrome (AGS) before the onset of end-stage liver disease. Study design: Thirteen prepubertal subjects with AGS (8 male; mean age, 6.8...
We describe 6 newborns evaluated for hypotonia, later diagnosed with Prader-Willi syndrome despite the absence of the classical neonatal features of this syndrome. Specific genetic testing for Prader-Willi syndrome should be considered for all neonates with undiagnosed central hypotonia even in...
Objective: To identify independent predictors of intracranial hemorrhage (ICH) during neonatal extracorporeal membrane oxygenation (ECMO). Study design: This retrospective cohort consisted of all neonates who did not have an ICH before treatment with ECMO identified in the Extracorporeal Life...
We describe 4 cases of lysinuric protein intolerance, which all fulfilled the diagnostic criteria for hemophagocytic lymphohistiocytosis. Mature histiocytes and neutrophil precursors participated in hemophagocytosis in the bone marrow. Moreover, serum levels of ferritin and lactate dehydrogenase...
We report the rare complication of a splenic abscess in an 11-year-old girl with type 3 Gaucher’s disease, massive splenomegaly, and a splenic cyst after commencement of enzyme replacement therapy. This case highlights potential difficulties in establishing the diagnosis of splenic abscess in...
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