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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1981 | 1 |
2001 | 1 |
2002 | 1 |
2010 | 1 |
2014 | 1 |
2015 | 1 |
2021 | 1 |
2022 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 326625
7 results
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Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia.
Mol Genet Genomic Med. 2022 Jul;10(7):e1971. doi: 10.1002/mgg3.1971. Epub 2022 Jun 16.
Mol Genet Genomic Med. 2022.
PMID: 35712814
Free PMC article.
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR.
Forny P, et al.
Hum Genet. 2022 Jul;141(7):1253-1267. doi: 10.1007/s00439-021-02398-6. Epub 2021 Nov 18.
Hum Genet. 2022.
PMID: 34796408
Free PMC article.
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Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
Brasil S, Richard E, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat LR, Ugarte M, Pérez B.
Brasil S, et al.
Clin Genet. 2015 Jun;87(6):576-81. doi: 10.1111/cge.12426. Epub 2014 Jun 6.
Clin Genet. 2015.
PMID: 24813872
Free PMC article.
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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.
Jorge-Finnigan A, et al.
Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307.
Hum Mutat. 2010.
PMID: 20556797
Free PMC article.
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Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA.
Dobson CM, et al.
Hum Mol Genet. 2002 Dec 15;11(26):3361-9. doi: 10.1093/hmg/11.26.3361.
Hum Mol Genet. 2002.
PMID: 12471062
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Functional genomic, biochemical, and genetic characterization of the Salmonella pduO gene, an ATP:cob(I)alamin adenosyltransferase gene.
Johnson CL, Pechonick E, Park SD, Havemann GD, Leal NA, Bobik TA.
Johnson CL, et al.
J Bacteriol. 2001 Mar;183(5):1577-84. doi: 10.1128/JB.183.5.1577-1584.2001.
J Bacteriol. 2001.
PMID: 11160088
Free PMC article.
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The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts.
Fenton WA, Rosenberg LE.
Fenton WA, et al.
Biochem Biophys Res Commun. 1981 Jan 15;98(1):283-9. doi: 10.1016/0006-291x(81)91900-8.
Biochem Biophys Res Commun. 1981.
PMID: 7213387
No abstract available.
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