Homozygous autosomal recessive hypercholesterolaemia in a South Asian child presenting with multiple cutaneous xanthomata.

Thadchanamoorthy, V; Dayasiri, Kavinda; Majitha, S I; Hooper, Amanda J; Burnett, John R

Thadchanamoorthy, V; Dayasiri, Kavinda; Majitha, S I; Hooper, Amanda J; Burnett, John R.

Thadchanamoorthy V; Department of Paediatrics, Faculty of Health Care Science, Eastern University, Chenkalady, Sri Lanka.
Dayasiri K; Department of Paediatrics, Base Hospital, Mahaoya, Sri Lanka.
Majitha SI; Department of Chemical Pathology, Batticaloa Teaching Hospital, Batticaloa, Sri Lanka.
Hooper AJ; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia.
Burnett JR; School of Medicine, University of Western Australia, Royal Perth Hospital, Perth, Australia.

Ann Clin Biochem ; 58(2): 153-156, 2021 03.

Article en En | MEDLINE | ID: mdl-32936664

Asunto(s)

Hipercolesterolemia/diagnóstico; Xantomatosis/diagnóstico; Proteínas Adaptadoras Transductoras de Señales/genética; Asia Sudoriental; Atorvastatina/uso terapéutico; Niño; LDL-Colesterol/sangre; Codo/patología; Femenino; Mutación del Sistema de Lectura; Pruebas Genéticas; Homocigoto; Humanos; Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico; Hipercolesterolemia/tratamiento farmacológico; Rodilla/patología; Receptores de LDL/genética; Piel/patología; Resultado del Tratamiento; Xantomatosis/tratamiento farmacológico; Hiperlipoproteinemia Tipo III

Palabras clave

Autosomal recessive hypercholesterolemia; atherosclerosis; cutaneous xanthomata

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Xantomatosis / Hipercolesterolemia Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans País como asunto: Asia Idioma: En Año: 2021 Tipo del documento: Article

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