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...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 6 vom: 02. Juni, Seite 435-439
1. Verfasser:	Fang, D (VerfasserIn)
Weitere Verfasser:	Liang, L L, Qiu, W J, Fan, Y J, Sun, Y, Yan, H, Yu, Y G, Gu, X F
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2018
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	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 mehr... Lipoproteins Phytosterols Cholesterol 97C5T2UQ7J