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Items: 8

1.

Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.

Ghoraba DA, Mohammed MM, Zaki OK.

Meta Gene. 2015 Feb 25;3:71-88. doi: 10.1016/j.mgene.2014.02.001. eCollection 2015 Feb.

2.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.

Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Review.

3.

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P.

Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148.

4.

FunSAV: predicting the functional effect of single amino acid variants using a two-stage random forest model.

Wang M, Zhao XM, Takemoto K, Xu H, Li Y, Akutsu T, Song J.

PLoS One. 2012;7(8):e43847. doi: 10.1371/journal.pone.0043847. Epub 2012 Aug 24.

5.

Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

Froese DS, Gravel RA.

Expert Rev Mol Med. 2010 Nov 29;12:e37. doi: 10.1017/S1462399410001651. Review.

6.

Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B.

Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307.

7.

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

Rincón A, Aguado C, Desviat LR, Sánchez-Alcudia R, Ugarte M, Pérez B.

Am J Hum Genet. 2007 Dec;81(6):1262-70.

8.

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.

Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP.

BMC Med Genet. 2007 Oct 15;8:64.

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