Methylmalonic aciduria and homocystinuria cblC is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MMACHC gene.
1. |
Bodamer OA et al. (2001) Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). |
2. |
Mudd SH et al. (1970) Deranged B 12 metabolism: effects on sulfur amino acid metabolism. |
3. |
Bartholomew DW et al. (1988) Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. |
4. |
Brandstetter Y et al. (1990) Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type). |
5. |
Russo P et al. (1992) A congenital anomaly of vitamin B12 metabolism: a study of three cases. |
6. |
Gravel RA et al. (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. |
7. |
Mahoney MJ et al. (1975) Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis. |
8. |
Baumgartner ER et al. (1979) Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology. |
9. |
Mellman I et al. (1979) Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells. |
10. |
Baumgartner ER et al. (1979) Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. |
11. |
Schimel AM et al. (2006) The natural history of retinal degeneration in association with cobalamin C (cbl C) disease. |
12. |
Van Hove JL et al. (2002) Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. |
13. |
Andersson HC et al. () Long-term outcome in treated combined methylmalonic acidemia and homocystinemia. |
14. |
Enns GM et al. (1999) Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. |
15. |
Cerone R et al. (1999) Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism. |
16. |
Rosenblatt DS et al. (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). |
17. |
Shinnar S et al. (1984) Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy. |
18. |
None (1969) Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. |
19. |
Mudd SH et al. (1969) A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. |
20. |
Mudd SH et al. (1970) Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture. |
21. |
Goodman SI et al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship. |
22. |
Sharma AP et al. (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. |
23. |
Kömhoff M et al. (2013) Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency. |
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Liu MY et al. (2010) Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. |
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Lerner-Ellis JP et al. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. |
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Tsai AC et al. (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. |
27. |
Ben-Omran TI et al. (2007) Late-onset cobalamin-C disorder: a challenging diagnosis. |
28. |
Morel CF et al. (2006) Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. |
29. |
Lerner-Ellis JP et al. (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. |
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OMIM.ORG article Omim 277400 |