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MMADHC gene
Known as:
C2ORF25
, CL25022
, cblD
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This gene is involved in vitamin metabolism.
National Institutes of Health
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Related topics
Related topics
5 relations
GCFC2 gene
MMADHC wt Allele
Metabolism
Methylmalonic Aciduria and Homocystinuria, CblD Type
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A Compound Heterozygote Mutation in a Chinese Patient Affected with Methylmalonic Acidemia
Yu Yang
,
Hui Huang
,
Yi Yuan
2018
Corpus ID: 164959426
Conclusions: A compound heterozygote mutation c.571C>T(p.R191W)and c.539C>G(p.S180W)of the MMAB gene mutation can be a cause of…
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Review
2016
Review
2016
Table 7. [Isolated MMA-Associated MMADHC Pathogenic Variants Discussed in This GeneReview].
I. Manoli
,
J. Sloan
,
C. Venditti
2016
Corpus ID: 185577579
2013
2013
Ruma Banerjee Carmen Gherasim , Michael Lofgren and Delivery , and Disorders of Cobalamin Road : Assimilation , 12 Navigating the
2013
Corpus ID: 207858357
2008
2008
Disorders of vitamin B12 metabolism presenting through newborn screening.
J. Fletcher
Annals of the Academy of Medicine, Singapore
2008
Corpus ID: 14469257
Elevated propionyl C3 carnitine is the most common abnormality seen in tandem mass spectrometry newborn screening profiles, with…
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