Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1.

Kawahara, Sakura; Imagawa, Kazuo; Suzuki, Hisato; Ohto, Tatsuyuki; Takada, Hidetoshi

Kawahara, Sakura; Imagawa, Kazuo; Suzuki, Hisato; Ohto, Tatsuyuki; Takada, Hidetoshi.

Afiliação

Kawahara S; Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan.
Imagawa K; Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan.
Suzuki H; Department of Child Health, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
Ohto T; Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan.
Takada H; Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan.

Pediatr Int ; 65(1): e15559, 2023.

Article em En | MEDLINE | ID: mdl-37350556

Assuntos

Hiperlipidemias; Hipertrigliceridemia; Receptores de Lipoproteínas; Humanos; Hipertrigliceridemia/genética; Lipase Lipoproteica; Mutação; Receptores de Lipoproteínas/genética

Palavras-chave

GPIHBP1; hyperchylomicronemia; hypertriglyceridemia; lipoprotein lipase; pancreatitis

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hipertrigliceridemia / Receptores de Lipoproteínas / Hiperlipidemias Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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