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...
Ausführliche Beschreibung
Bibliographische Detailangaben
Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 9 vom: 02. Sept., Seite 662-666
|
1. Verfasser: |
Xu, K
(VerfasserIn) |
Weitere Verfasser: |
Mao, X Y,
Yao, Y,
Cheng, H,
Zhang, X J |
Format: | Online-Aufsatz
|
Sprache: | Chinese |
Veröffentlicht: |
2018
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Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
|
Schlagworte: | 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.- |