These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Journal Abstract Search
432 related items for PubMed ID: 20631720
21. Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort. Wu SN, E HS, Yu Y, Ling SY, Liang LL, Qiu WJ, Zhang HW, Shuai RX, Wei HY, Yang CJ, Xu P, Chen XG, Zou H, Feng JZ, Niu TT, Hu HL, Zhang KC, Lu DY, Gong ZW, Zhan X, Ji WJ, Gu XF, Chen YX, Han LS. World J Pediatr; 2024 Aug; 20(8):848-858. PubMed ID: 38070096 [Abstract] [Full Text] [Related]
23. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. J Pediatr; 2009 Apr; 154(4):551-6. PubMed ID: 19058814 [Abstract] [Full Text] [Related]
24. A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China. Yang H, Li M, Zou L, Zou H, Zhao Y, Cui Y, Han J. Intractable Rare Dis Res; 2023 Feb; 12(1):29-34. PubMed ID: 36873673 [Abstract] [Full Text] [Related]
36. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B. Mol Genet Metab; 2005 Apr 27; 84(4):317-25. PubMed ID: 15781192 [Abstract] [Full Text] [Related]
37. [Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases]. Liu XQ, Yan H, Qiu JX, Zhang CY, Qi JG, Zhang X, Xiao HJ, Yang YL, Chen YH, Du JB. Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct 18; 49(5):768-777. PubMed ID: 29045954 [Abstract] [Full Text] [Related]