Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort

Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene ( MMACHC ) c.482G > A mutation in 195 Chinese cases with CblC disease. Methods We carried out a national, retrospective multi...

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Veröffentlicht in:	World journal of pediatrics : WJP 2024-08, Vol.20 (8), p.848-858
Hauptverfasser:	Wu, Sheng-Nan, E, Hui-Shu, Yu, Yue, Ling, Shi-Ying, Liang, Li-Li, Qiu, Wen-Juan, Zhang, Hui-Wen, Shuai, Rui-Xue, Wei, Hai-Yan, Yang, Chi-Ju, Xu, Peng, Chen, Xi-Gui, Zou, Hui, Feng, Ji-Zhen, Niu, Ting-Ting, Hu, Hai-Li, Zhang, Kai-Chuang, Lu, De-Yun, Gong, Zhu-Wen, Zhan, Xia, Ji, Wen-Jun, Gu, Xue-Fan, Chen, Yong-Xing, Han, Lian-Shu
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino Acid Metabolism, Inborn Errors - genetics Carrier Proteins - genetics Child Child, Preschool China - epidemiology Cohort Studies Critical Care Medicine Female Follow-Up Studies Homocystinuria Humans Imaging Infant Infant, Newborn Intensive Male Maternal and Child Health Medicine Medicine & Public Health Mutation Neonatal Screening Original Original Article Oxidoreductases - genetics Pediatric Surgery Pediatrics Phenotype Radiology Retrospective Studies Surgery Vitamin B 12 Deficiency - congenital
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