EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   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 | 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 | Homocystinuria |
23580368 |
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 2.5.1.151 | Homocystinuria |
24210589 |
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. |
causal interaction
unassigned |
4
0 |
| 2.5.1.151 | Homocystinuria |
25687216 |
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy. |
causal interaction
unassigned |
3
0 |
| 2.5.1.151 | Homocystinuria |
26149271 |
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. |
causal interaction
unassigned |
4
0 |
| 2.5.1.151 | Homocystinuria |
26283149 |
MMACHC gene mutation in familial hypogonadism with neurological symptoms. |
causal interaction
unassigned |
3
0 |
| 2.5.1.151 | Homocystinuria |
28481040 |
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients. |
unassigned |
0 |
