Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria

[1]  T. Suormala,et al.  Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patient , 1990, European Journal of Pediatrics.

[2]  M. Splaingard,et al.  Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type). , 1990, American journal of medical genetics.

[3]  E. Zammarchi,et al.  cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling. , 1990, Clinical and investigative medicine. Medecine clinique et experimentale.

[4]  U. Caruso,et al.  Gas chromatographic/mass spectrometric and gas chromatographic/fourier transform infrared analysis of organic acids: Preliminary data , 1988 .

[5]  P. Donnai,et al.  First trimester diagnosis of methylmalonic aciduria , 1988, Prenatal diagnosis.

[6]  C. Roe,et al.  Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. , 1988, The Journal of pediatrics.

[7]  H. Tallan,et al.  A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. , 1986, Neuropediatrics.

[8]  A. Ribes,et al.  Methylmalonic aciduria with homocystinuria. , 1984, Journal of inherited metabolic disease.

[9]  R. Chalmers,et al.  Organic Acids in Man , 1983, Archives of disease in childhood.

[10]  B. Fowler Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts. , 1982, Biochimica et biophysica acta.

[11]  R. Chalmers,et al.  Disorders of propionate and methylmalonate metabolism , 1982 .