Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review

Objective: To explore the clinical and genetic characteristics of infantile nephrotic syndrome caused by COQ2 variants. Methods: The clinical and genetic data of a patient with nephrotic syndrome caused by COQ2 variants diagnosed at pediatric department of Peking University First Hospital from Febru...

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Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 9 vom: 02. Sept., Seite 662-666
Auteur principal: Xu, K (Auteur)
Autres auteurs: Mao, X Y, Yao, Y, Cheng, H, Zhang, X J
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 Review Albuminuria Genetic testing Infant Mitochondrial diseases Alkyl and Aryl Transferases EC 2.5.- 4-hydroxybenzoate polyprenyltransferase EC 2.5.1.-