Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia

Objective: To investigate clinical, molecular genetic characteristics, and treatment outcomes of 3 children with sitosterolemia. Methods: Three cases of children presented with multiple xanthomas during June 2016 to June 2017 were included. The clinical manifestations, laboratory examinations and fo...

Description complète

Détails bibliographiques

Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 6 vom: 02. Juni, Seite 435-439
Auteur principal:	Fang, D (Auteur)
Autres auteurs:	Liang, L L, Qiu, W J, Fan, Y J, Sun, Y, Yan, H, Yu, Y G, Gu, X F
Format:	Article en ligne
Langue:	Chinese
Publié:	2018
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	Case Reports Journal Article Genes High-throughput nucleotide sequencing Hypercholesterolemia Xanthomatosis ABCG8 protein, human ATP Binding Cassette Transporter, Subfamily G, Member 5 ATP Binding Cassette Transporter, Subfamily G, Member 8 ATP-Binding Cassette Transporters plus... Lipoproteins Phytosterols Cholesterol 97C5T2UQ7J