EC Number   |
Disease |
PubMed ID  |
Title of Publication |
Category |
Confidence Level |
|---|
   2.5.1.151 | Homocystinuria |
18164228 |
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. |
therapeutic application
unassigned |
1
0 |
| 2.5.1.151 | Homocystinuria |
18848477 |
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. |
ongoing research
unassigned |
2
0 |
| 2.5.1.151 | Infections |
19200761 |
Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence. |
ongoing research
therapeutic application
unassigned |
1
1
0 |
| 2.5.1.151 | Homocystinuria |
19370762 |
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. |
causal interaction
unassigned |
3
0 |
| 2.5.1.151 | Homocystinuria |
19836982 |
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 2.5.1.151 | Homocystinuria |
20610126 |
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. |
causal interaction
unassigned |
2
0 |
| 2.5.1.151 | Homocystinuria |
20631720 |
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 2.5.1.151 | Metabolic Diseases |
21748409 |
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. |
causal interaction
unassigned |
3
0 |
| 2.5.1.151 | Homocystinuria |
21835369 |
Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 2.5.1.151 | Hyperhomocysteinemia |
23430797 |
Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease. |
causal interaction
unassigned |
4
0 |
