A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect
Author:
Funder
Council of Scientific and Industrial Research, India
Publisher
Springer Science and Business Media LLC
Subject
Organic Chemistry,Clinical Biochemistry,Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s00726-021-02942-8.pdf
Reference46 articles.
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2. Boxer AL, Kramer JH, Johnston K, Goldman J, Finley R, Miller BL (2005) Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment. Neurology 64(8):1431–1434. https://doi.org/10.1212/01.WNL.0000158476.74580.A8
3. Carrillo-Carrasco N, Venditti CP (2012) Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. J Inherit Metab Dis 35(1):103–114. https://doi.org/10.1007/s10545-011-9365-x
4. Chang JT, Chen YY, Liu TT, Liu MY, Chiu PC (2011) Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. Pediatr Neonatol 52(4):223–226. https://doi.org/10.1016/j.pedneo.2011.05.006
5. Dabrowski M, Bukowy-Bieryllo Z, Zietkiewicz E (2018) Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons. Mol Med 24(1):25. https://doi.org/10.1186/s10020-018-0024-7
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