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

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Title: Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Authors: Wu SN; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No. 255 Gangdu Street, Zhengzhou, China., E HS; Department of Pediatric Endocrinology and Genetics, Fujian Children's Hospital, Fuzhou, China., Yu Y; The Center for Pediatric Liver Diseases, Children's Hospital, Fudan University, Shanghai, China., Ling SY; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Liang LL; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Qiu WJ; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Zhang HW; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Shuai RX; Department of Pediatrics, Second Affiliated Hospital of Naval Medical University, Shanghai, China., Wei HY; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No. 255 Gangdu Street, Zhengzhou, China., Yang CJ; Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China., Xu P; Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China., Chen XG; Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China., Zou H; Center of Neonatal Disease Screening, Jinan Maternal and Child Health Care Hospital, Jinan, China., Feng JZ; Center of Neonatal Disease Screening, Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, China., Niu TT; Center of Neonatal Disease Screening, Shandong Maternal and Child Health Care Hospital, Jinan, China., Hu HL; Center of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei, China., Zhang KC; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Lu DY; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Gong ZW; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Zhan X; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Ji WJ; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Gu XF; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Chen YX; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No. 255 Gangdu Street, Zhengzhou, China. cyx75@126.com., Han LS; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China. hanlianshu@xinhuamed.com.cn.
Source: World journal of pediatrics : WJP [World J Pediatr] 2024 Aug; Vol. 20 (8), pp. 848-858. Date of Electronic Publication: 2023 Dec 09.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Springer International Publ Country of Publication: Switzerland NLM ID: 101278599 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1867-0687 (Electronic) NLM ISO Abbreviation: World J Pediatr Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1867-0687
DOI:10.1007/s12519-023-00770-2