Infantile Hyperchylomicronemia Due to A Novel GPIHBP1 Disease-Causing Variant Presenting with Milky Blood: A Rare Case Report

Background: Familial hyperchylomicronemia is a very rare autosomal recessive disorder and the most severe type of pediatric hyperlipidemia. The purpose of this case report is to enhance clinician's insight on the diagnosis and management plan in the case of infantile hyperchylomicronemia presenting...

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Principais autores:	Iman Marzouq, Basant Elbanna, Sabine Schröder, Kornelia Tripolszki, Aida M. Bertoli-Avella, Aml Mahfouz
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Indonesian Society of Pediatric Gastroenterology, Hepatology, and Nutrition 2023-05-01
coleção:	Archives of Pediatric Gastroenterology, Hepatology, and Nutrition
Assuntos:	chylomicronemia GPIHBP1 milky blood medium-chain triglycerides fenofibrates
Acesso em linha:	https://apghn.com/index.php/journal/article/view/33
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