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Items: 3

1.
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings
Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu
BMC Med Genet. 2018; 19: 114. Published online 2018 Jul 11. doi: 10.1186/s12881-018-0635-4
PMCID:
PMC6042273
AbstractArticlePDF–2.2M
2.
Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia
Fatemeh Keyfi, Mohammad Reza Abbaszadegan, Arndt Rolfs, Slobodanka Orolicki, Morteza Moghaddassian, Abdolreza Varasteh
Cell Mol Biol Lett. 2016; 21: 4. Published online 2016 Jul 28. doi: 10.1186/s11658-016-0005-1
PMCID:
PMC5415723
AbstractArticlePDF–2.5M
3.
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements
C. Melissa Dobson, Timothy Wai, Daniel Leclerc, Aaron Wilson, Xuchu Wu, Carole Doré, Thomas Hudson, David S. Rosenblatt, Roy A. Gravel
Proc Natl Acad Sci U S A. 2002 Nov 26; 99(24): 15554–15559. Published online 2002 Nov 15. doi: 10.1073/pnas.242614799
PMCID:
PMC137755
AbstractArticlePDF–450K

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