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All Journal Paediatrica Indonesiana
Hidayati, Irma Sri
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Health Professions Medicine & Pharmacology

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Primary hypertriglyceridemia in children with familial chylomicronemia syndrome Jumantan, Dewi; Widowati, Titis; Hidayati, Irma Sri; Prawirohartono, Endy P.
Paediatrica Indonesiana Vol. 64 No. 6 (2024): November 2024
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi64.6.2024.546-50

Abstract

Hypertriglyceridemia can be caused by primary (genetic) or secondary etiology. One of the primary causes is hyperlipoproteinemia type I or known as familial chylomicronemia syndrome. Familial chylomicronemia syndrome is a rare autosomal recessive disease that occurs in 1-2 per 1,000,000 people, with specific characteristic signs, namely severe increment of fasting plasma triglyceride up to 100 times the normal value (about 1500-15,000 mg/dl) caused by lipoprotein lipase (LPL) mutation.
Co-Authors Endy P. Prawirohartono, Endy P. Jumantan, Dewi Titis Widowati, Titis