Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.

Kaya, Zühre; Sal, Ertan; Yorulmaz, Asli; Hsieh, Yu-Ping; Gülen, Hüseyin; Yildirim, Aysen Türedi; Niu, Dau-Ming; Tekin, Aziz

Kaya, Zühre; Sal, Ertan; Yorulmaz, Asli; Hsieh, Yu-Ping; Gülen, Hüseyin; Yildirim, Aysen Türedi; Niu, Dau-Ming; Tekin, Aziz.

Kaya Z; Department of Pediatric Hematology, Gazi University Faculty of Medicine, Besevler, Ankara 06500, Turkey. Electronic address: zuhrekaya@gazi.edu.tr.
Sal E; Department of Pediatric Hematology, Gazi University Faculty of Medicine, Besevler, Ankara 06500, Turkey.
Yorulmaz A; Department of Food Engineering, Adnan Menderes University, Faculty of Engineering, Aydin, Turkey.
Hsieh YP; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Gülen H; Department of Pediatric Hematology, Manisa Celal Bayar University Faculty of Medicine, Turkey.
Yildirim AT; Department of Pediatric Hematology, Manisa Celal Bayar University Faculty of Medicine, Turkey.
Niu DM; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
Tekin A; Department of Food Engineering, Ankara University, Faculty of Engineering, Ankara, Turkey.

J Clin Lipidol ; 15(5): 690-698, 2021.

Article en En | MEDLINE | ID: mdl-34304999

Asunto(s)

Transportador de Casetes de Unión a ATP, Subfamilia G, Miembro 5/genética; Transportador de Casete de Unión a ATP, Subfamilia G, Miembro 8/genética; Hipercolesterolemia/sangre; Hipercolesterolemia/genética; Enfermedades Intestinales/sangre; Enfermedades Intestinales/genética; Errores Innatos del Metabolismo Lipídico/sangre; Errores Innatos del Metabolismo Lipídico/genética; Lipoproteínas/genética; Mutación; Fitosteroles/efectos adversos; Sitoesteroles/sangre; Adolescente; Adulto; Biomarcadores/sangre; Niño; Preescolar; Cromatografía de Gases; Femenino; Genotipo; Heterocigoto; Humanos; Hipercolesterolemia/diagnóstico; Enfermedades Intestinales/diagnóstico; Errores Innatos del Metabolismo Lipídico/diagnóstico; Masculino; Persona de Mediana Edad; Fenotipo; Fitosteroles/sangre; Fitosteroles/genética; Análisis de Secuencia de ADN/métodos; Turquía; Adulto Joven

Palabras clave

Macrothrombocytopenia; Sitosterolemia; Stomatocytosis; Turkish patients

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fitosteroles / Sitoesteroles / Transportador de Casetes de Unión a ATP, Subfamilia G, Miembro 5 / Transportador de Casete de Unión a ATP, Subfamilia G, Miembro 8 / Hipercolesterolemia / Enfermedades Intestinales / Errores Innatos del Metabolismo Lipídico / Lipoproteínas / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País como asunto: Asia Idioma: En Año: 2021 Tipo del documento: Article

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