Molecular and functional characterization of familial chylomicronemia syndrome.

Teramoto, Ryota; Tada, Hayato; Kawashiri, Masa-Aki; Nohara, Atsushi; Nakahashi, Takuya; Konno, Tetsuo; Inazu, Akihiro; Mabuchi, Hiroshi; Yamagishi, Masakazu; Hayashi, Kenshi

Teramoto, Ryota; Tada, Hayato; Kawashiri, Masa-Aki; Nohara, Atsushi; Nakahashi, Takuya; Konno, Tetsuo; Inazu, Akihiro; Mabuchi, Hiroshi; Yamagishi, Masakazu; Hayashi, Kenshi.

Afiliación

Teramoto R; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.
Tada H; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan. Electronic address: ht240z@sa3.so-net.ne.jp.
Kawashiri MA; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.
Nohara A; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.
Nakahashi T; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.
Konno T; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.
Inazu A; Department of Laboratory Science, Molecular Biochemistry and Molecular Biology, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
Mabuchi H; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.
Yamagishi M; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.
Hayashi K; Department of Cardiovascular and Internal Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.

Atherosclerosis ; 269: 272-278, 2018 02.

Article en En | MEDLINE | ID: mdl-29153744

Asunto(s)

Hiperlipoproteinemia Tipo I/sangre; Hiperlipoproteinemia Tipo I/genética; Hipertrigliceridemia/sangre; Hipertrigliceridemia/genética; Lipoproteína Lipasa/genética; Mutación; Triglicéridos/sangre; Adulto; Niño; Preescolar; Angiografía por Tomografía Computarizada; Angiografía Coronaria/métodos; Enfermedad de la Arteria Coronaria/diagnóstico por imagen; Enfermedad de la Arteria Coronaria/genética; Análisis Mutacional de ADN/métodos; Progresión de la Enfermedad; Femenino; Frecuencia de los Genes; Predisposición Genética a la Enfermedad; Herencia; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Hiperlipoproteinemia Tipo I/complicaciones; Hiperlipoproteinemia Tipo I/diagnóstico; Hipertrigliceridemia/diagnóstico; Lactante; Masculino; Pancreatitis/diagnóstico; Pancreatitis/genética; Fenotipo; Recurrencia; Factores de Riesgo; Factores de Tiempo; Regulación hacia Arriba; Adulto Joven

Palabras clave

Familial chylomicronemia syndrome; Lipoprotein; Lipoprotein lipase deficiency; Triglyceride

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Triglicéridos / Hipertrigliceridemia / Lipoproteína Lipasa / Hiperlipoproteinemia Tipo I / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Atherosclerosis Año: 2018 Tipo del documento: Article País de afiliación: Japón

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