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2009 | 1 |
2014 | 1 |
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Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001.
Hum Mutat. 2009.
PMID: 19370762
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M, Scholl-Bürgi S, Hadaya K, Kern I, Beer R, Seppi K, Fowler B, Baumgartner MR, Karall D.
Huemer M, et al.
Orphanet J Rare Dis. 2014 Nov 15;9:161. doi: 10.1186/s13023-014-0161-1.
Orphanet J Rare Dis. 2014.
PMID: 25398587
Free PMC article.
Review.
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