A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia-Reference-Cited by-全球学者库

A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia

Published:2019-11-26 Issue:3 Volume:43 Page:409-423
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Kang Lulu¹,Liu Yupeng²,Shen Ming³,Liu Yi¹,He Ruxuan¹,Song Jinqing¹,Jin Ying¹,Li Mengqiu¹,Zhang Yao¹,Dong Hui¹,Liu Xueqin¹,Yan Hui¹,Qin Jiong²,Zheng Hong⁴,Chen Yongxing⁵,Li Dongxiao⁵,Wei Haiyan⁵,Zhang Huifeng⁶,Sun Liying⁷,Zhu Zhijun⁷,Liang Desheng⁸,Yang Yanling¹

Affiliation:

1. Department of Pediatrics Peking University First Hospital Beijing China

2. Department of Pediatrics People's Hospital of Peking University Beijing China

3. Translational Medicine Laboratory Chinese People's Liberation Army General Hospital Beijing China

4. Department of Pediatrics First Affiliated Hospital of Henan University of Traditional Chinese Medicine Zhengzhou China

5. Department of Endocrinology and Genetic Henan Children's Hospital Zhengzhou China

6. Department of Pediatrics Hebei Medical University Second Hospital Shijiazhuang China

7. Center of Liver Transplantation Beijing Friendship Hospital Beijing China

8. Center of Medical Genetics, School of Life Sciences Central South University Changsha China

Funder

National Natural Science Foundation of China

National Basic Research Program of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12183

Reference57 articles.

1. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

2. Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China;Liu Y;Zhonghua Er Ke Za Zhi,2018

3. Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations

4. Cobalamin C defect: natural history, pathophysiology, and treatment

5. ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry

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1. Long-term clinical outcomes and health-related quality of life in patients with isolated methylmalonic acidemia after liver transplantation: experience from the largest cohort study in China;World Journal of Pediatrics;2024-01-08

2. Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report;Molecular Genetics and Metabolism;2024-01

3. 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

4. Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series;Frontiers in Neurology;2023-11-24

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