Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study-Reference-Cited by-同舟云学术

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Published:2021-10-20 Issue:11 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yu Yue¹,Shuai Ruixue¹,Liang Lili¹^ORCID,Qiu Wenjuan¹^ORCID,Shen Linghua²,Wu Shengnan²,Wei Haiyan²,Chen Yongxing²,Yang Chiju³,Xu Peng³,Chen Xigui³,Zou Hui⁴,Feng Jizhen⁵,Niu Tingting⁶,Hu Haili⁷,Ye Jun¹,Zhang Huiwen¹^ORCID,Lu Deyun¹,Gong Zhuwen¹,Zhan Xia¹,Ji Wenjun¹,Gu Xuefan¹,Han Lianshu¹^ORCID

Affiliation:

1. Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China

2. Department of Pediatric Endocrinology and Genetics Children’s Hospital Affiliated to Zhengzhou University Zhengzhou China

3. Center of Neonatal Disease Screening Jining Maternal and Child Health Care Hospital Jining China

4. Center of Neonatal Disease Screening Jinan Maternal and Child Health Care Hospital Jinan China

5. Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care Hospital Shijiazhuang China

6. Center of Neonatal Disease Screening Shandong Maternal and Child Health Care Hospital Jinan China

7. Center of Neonatal Disease Screening Hefei Maternal and Child Health Care Hospital Hefei China

Funder

National Key Research and Development Program of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1822

Reference35 articles.

1. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

2. Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

3. Molecular Genetic Characterization of 151Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations inMUT

4. Causes of and diagnostic approach to methylmalonic acidurias

5. Methylmalonic and propionic acidemias: clinical management update

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population;Clinica Chimica Acta;2024-01

2. Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China;2023-11-24

3. A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening;Journal of Ankara University Faculty of Medicine;2023-10-24

4. Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases;Journal of Medical Genetics;2023-06-14

5. Serum vitamin B12 is a promising auxiliary index for the diagnosis of methylmalonic acidemia in children: A single center study in China;Clinica Chimica Acta;2023-06