ArticleFrontiers in genetics2022
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.
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Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 6% of its field
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.Pediatric research · 2025Pooled it
- Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds.ACS omega · 2026Article
- Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy.Pediatric research · 2026Article
- Review
- Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report.Frontiers in pediatrics · 2026Article
- Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.Journal of translational medicine · 2025Article
- First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.Molecular biology reports · 2025Article
- Faster, affordable, and reliable diagnosis of cobalamin C disease by targeted sequencing.Pediatric research · 2025Article
- Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.Pediatric research · 2025Article
- Analysis of hydroxocobalamin dosage in patients with CblC deficiency.Orphanet journal of rare diseases · 2025Article
- Long-term outcome of CblC deficiency complicated with pulmonary hypertension.Orphanet journal of rare diseases · 2025Article
- Review
- Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.Pediatric research · 2025Article
- Article
- Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.Frontiers in neurology · 2025Article
- Improving the second-tier classification of methylmalonic acidemia patients using a machine learning ensemble method.World journal of pediatrics : WJP · 2024Article
- Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.World journal of pediatrics : WJP · 2024Article
- Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.Human genomics · 2024Article
- Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Orphanet journal of rare diseases · 2024Article
- The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases.Frontiers in nutrition · 2024Article
Corrections and comments
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Authors and funding
20 authors at 8 institutions in 1 country.
Shiying LingDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Shengnan WuDepartment 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, Zhengzhou, China.
Ruixue ShuaiDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Yue YuDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Wenjuan QiuDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Haiyan WeiDepartment 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, Zhengzhou, China.
Chiju YangCenter of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China.
Peng XuCenter of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China.
Hui ZouCenter of Neonatal Disease Screening, Jinan Maternal and Child Health Care Hospital, Jinan, China.
Jizhen FengCenter of Neonatal Disease Screening, Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, China.
Tingting NiuCenter of Neonatal Disease Screening, Shandong Maternal and Child Health Care Hospital, Jinan, China.
Haili HuCenter of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei, China.
Huiwen ZhangDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Lili LiangDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Deyun LuDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Zhuwen GongDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Xia ZhanDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Wenjun JiDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Xuefan GuDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Lianshu HanDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Shanghai Jiao Tong University · CNXinHua Hospital · CNJingzhou Maternal and Child Health Hospital · CNHefei Infectious Disease Hospital · CNJinan Maternity And Care Hospital · CNShandong Maternal and Child Health Hospital · CNZhengzhou Children's Hospital · CNZhengzhou University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
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Indexed as
long-term outcomemethylmalonic acidemia combined with homocysteinemiaMMACHC genenewborn screeningtandem mass spectrometry
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.