Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria
暂无分享,去创建一个
C. Bellini | W. Bonacci | U. Caruso | R. Cerone | B. Fowler | G. Serra | C. Romano | C. Magliano
[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 .