Methylmalonic aciduria

Rosenblatt DS et al. (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Mellman I et al. (1978) Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

Fenton WA et al. (1978) Genetic and biochemical analysis of human cobalamin mutants in cell culture.

Carmel R et al. (1980) Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.

Watkins D et al. (2000) Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).

Mudd SH et al. (1970) Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture.

Mudd SH et al. (1969) A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria.

None (1969) Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.

Shinnar S et al. (1984) Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.

Bodamer OA et al. (2001) Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

Cerone R et al. (1999) Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.

Enns GM et al. (1999) Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.

Andersson HC et al. () Long-term outcome in treated combined methylmalonic acidemia and homocystinemia.

Van Hove JL et al. (2002) Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

Schimel AM et al. (2006) The natural history of retinal degeneration in association with cobalamin C (cbl C) disease.

Kaplan P et al. (2006) Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.

Kruszka PS et al. (2013) Renal growth in isolated methylmalonic acidemia.

Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

Acquaviva C et al. (2001) N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

Lerner-Ellis JP et al. (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Morel CF et al. (2006) Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Ben-Omran TI et al. (2007) Late-onset cobalamin-C disorder: a challenging diagnosis.

Tsai AC et al. (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Lerner-Ellis JP et al. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Liu MY et al. (2010) Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

Kömhoff M et al. (2013) Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.

Sharma AP et al. (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.

Cooper BA et al. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.

Goodman SI et al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship.

Suormala T et al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

Coelho D et al. (2008) Gene identification for the cblD defect of vitamin B12 metabolism.

Stucki M et al. (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Willard HF et al. (1978) Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

OMIM.ORG article

Orphanet article

Wikipedia article