Genetic and genomic systems to study methylmalonic acidemia
- 31 October 2005
- journal article
- review article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 86 (1) , 34-43
- https://doi.org/10.1016/j.ymgme.2005.07.020
Abstract
No abstract availableKeywords
This publication has 60 references indexed in Scilit:
- Human ATP:Cob(I)alamin Adenosyltransferase and Its Interaction with Methionine Synthase ReductasePublished by Elsevier ,2004
- The Many Faces of Vitamin B12: Catalysis by Cobalamin-Dependent EnzymesAnnual Review of Biochemistry, 2003
- Identification of the Human and Bovine ATP:Cob(I)alamin Adenosyltransferase cDNAs Based on Complementation of a Bacterial MutantJournal of Biological Chemistry, 2003
- Gapped BLAST and PSI-BLAST: a new generation of protein database search programsNucleic Acids Research, 1997
- Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemiaThe Journal of Pediatrics, 1994
- Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.Journal of Clinical Investigation, 1994
- Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.Journal of Clinical Investigation, 1994
- Expression of Recombinant Human Methylmalonyl-CoA Mutase: In Primary mut Fibroblasts and Saccharomyces cerevisiaeBiochemical Medicine and Metabolic Biology, 1993
- The Natural History of the Inherited Methylmalonic AcidemiasNew England Journal of Medicine, 1983
- Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 DependencyScience, 1968