Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria
- 1 November 1992
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Pediatrics
- Vol. 151 (11), 818-820
- https://doi.org/10.1007/bf01957932
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cb1‐C type)American Journal of Medical Genetics, 1990
- cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling.1990
- Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patientEuropean Journal of Pediatrics, 1990
- Gas chromatographic/mass spectrometric and gas chromatographic/fourier transform infrared analysis of organic acids: Preliminary dataJournal of Mass Spectrometry, 1988
- First trimester diagnosis of methylmalonic aciduriaPrenatal Diagnosis, 1988
- Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuriaThe Journal of Pediatrics, 1988
- A Cobalamin Metabolic Defect with Homocystinuria, Methylmalonic Aciduria and Macrocytic Anemia*Neuropediatrics, 1986
- Methylmalonic Aciduria with HomocystinuriaJournal of Inherited Metabolic Disease, 1984
- Transsulphuration and methylation of homocysteine in control and mutant human fibroblastsBiochimica et Biophysica Acta (BBA) - Molecular Cell Research, 1982
- Organic Acids in ManPublished by Springer Science and Business Media LLC ,1982