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[Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients].

Autor: Deng YX; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Hao LL; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Ding S; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Ding Y; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Qiu WJ; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Zhang HW; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Liang LL; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Zhang KC; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Yang Y; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Wang RF; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Gu XF; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China., Han LS; Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.

Publikováno v: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Nov 02; Vol. 62 (11), pp. 1076-1082.

Overcoming Microstructural Defects at the Buried Interface of Formamidinium-Based Perovskite Solar Cells.

Autor: Lin HY; Department of Chemical Engineering, National Chung Hsing University, 145 Xingda Road, Taichung 40227, Taiwan., Jiang Z; Department of Materials, Molecular Sciences Research Hub, Imperial College London, 82 Wood Ln, London W12 0BZ, U.K., Liu SC; Department of Chemical Engineering, National Chung Hsing University, 145 Xingda Road, Taichung 40227, Taiwan., Du Z; Department of Materials, Molecular Sciences Research Hub, Imperial College London, 82 Wood Ln, London W12 0BZ, U.K., Hsu SE; Department of Chemical Engineering, National Chung Hsing University, 145 Xingda Road, Taichung 40227, Taiwan., Li YS; Department of Chemical Engineering, National Chung Hsing University, 145 Xingda Road, Taichung 40227, Taiwan., Qiu WJ; Department of Chemical Engineering, National Chung Hsing University, 145 Xingda Road, Taichung 40227, Taiwan., Yang H; Department of Chemical Engineering, National Chung Hsing University, 145 Xingda Road, Taichung 40227, Taiwan., Macdonald TJ; Department of Electronic & Electrical Engineering, University College London, Torrington Place, London WC1E 7JE, U.K., McLachlan MA; Department of Materials, Molecular Sciences Research Hub, Imperial College London, 82 Wood Ln, London W12 0BZ, U.K., Lin CT; Department of Chemical Engineering, National Chung Hsing University, 145 Xingda Road, Taichung 40227, Taiwan.; Innovation and Development Center of Sustainable Agriculture, National Chung Hsing University, 145 Xingda Road, Taichung 40227, Taiwan.

Publikováno v: ACS applied materials & interfaces [ACS Appl Mater Interfaces] 2024 Sep 11; Vol. 16 (36), pp. 47763-47772. Date of Electronic Publication: 2024 Aug 26.

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

Autor: 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.

Publikováno v: World journal of pediatrics : WJP [World J Pediatr] 2024 Aug; Vol. 20 (8), pp. 848-858. Date of Electronic Publication: 2023 Dec 09.