A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China-Reference-Cited by-同舟云学术

A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China

Published:2023-02-28 Issue:1 Volume:12 Page:29-34
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Yang Haining¹,Li Mian²,Zou Liang³,Zou Hui⁴,Zhao Yan²,Cui Yazhou²,Han Jinxiang²

Affiliation:

1. Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China.

2. Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, Shandong, China.

3. Bone Biomechanics Engineering Laboratory of Shandong Province, Neck-Shoulder and Lumbocrural Pain Hospital of Shandong First Medical University, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, China.

4. Ji'nan Maternity and Child Care Hospital, Ji'nan 250000, Shandong, China.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/12/1/12_2023.01016/_pdf

Reference19 articles.

1. 1. Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. J Inherit Metab Dis. 2010; 33 Suppl 3:S435-442.

2. 2. Zhou X, Cui Y, Han J. Methylmalonic acidemia: Current status and research priorities. Intractable Rare Dis Res. 2018; 7:73-78.

3. 3. Liu Y, Li X, Wang Q, Ding Y, Song J, Yang Y. Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria. Brain Dev. 2016; 38:61-67.

4. 4. Deme JC, Hancock MA, Xia X, Shintre CA, Plesa M, Kim JC, Carpenter EP, Rosenblatt DS, Coulton JW. Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. Mol Membr Biol. 2014; 31:250-261.

5. 5. Fischer S, Huemer M, Baumgartner M, et al. Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab Dis. 2014; 37:831-840.