Literature DB >> 4643536

Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.

E S Kang, P J Snodgrass, P S Gerald.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1972        PMID： 4643536     DOI： 10.1203/00006450-197212000-00004

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


× No keyword cloud information.
  10 in total

1.  Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.

Authors:  M J Mahoney; A C Hart; V D Steen; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1975-07       Impact factor: 11.205

Review 2.  Genetic and genomic systems to study methylmalonic acidemia.

Authors:  R J Chandler; C P Venditti
Journal:  Mol Genet Metab       Date:  2005-09-22       Impact factor: 4.797

3.  Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.

Authors:  L Corbeel; K Tada; J P Colombo; R Eeckels; E Eggermont; J Jaeken; W Den Tandt; L Harvengt; J Delhaye; W Deloecker
Journal:  Arch Dis Child       Date:  1975-02       Impact factor: 3.791

4.  Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.

Authors:  D T Whelan; E Ryan; M Spate; M Morris; R M Hurley; R Hill
Journal:  Can Med Assoc J       Date:  1979-05-19       Impact factor: 8.262

5.  Methylmalonic acidemia controlled with oral administration of vitamin B12.

Authors:  B A Gordon; R A Carson
Journal:  Can Med Assoc J       Date:  1976-08-07       Impact factor: 8.262

6.  Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.

Authors:  Randy J Chandler; Vijay Aswani; Matthew S Tsai; Marni Falk; Natasha Wehrli; Sally Stabler; Robert Allen; Margaret Sedensky; Haig H Kazazian; Charles P Venditti
Journal:  Mol Genet Metab       Date:  2006-07-14       Impact factor: 4.797

Review 7.  [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].

Authors:  D Leupold
Journal:  Klin Wochenschr       Date:  1977-01-15

8.  Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man?

Authors:  J A Montgomery; O A Mamer; C R Scriver
Journal:  J Clin Invest       Date:  1983-12       Impact factor: 14.808

9.  Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression.

Authors:  H F Willard; L E Rosenberg
Journal:  J Clin Invest       Date:  1980-03       Impact factor: 14.808

10.  Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.

Authors:  N J Hoogenraad; J D Mitchell; N A Don; T M Sutherland; A C Mc Leay
Journal:  Arch Dis Child       Date:  1980-04       Impact factor: 3.791
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.