Literature DB >> 371525

Genetic and biochemical analysis of human cobalamin mutants in cell culture.

W A Fenton, L E Rosenberg.   

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Year:  1978        PMID: 371525     DOI: 10.1146/annurev.ge.12.120178.001255

Source DB:  PubMed          Journal:  Annu Rev Genet        ISSN: 0066-4197            Impact factor:   16.830


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  11 in total

1.  Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

Authors:  I Mellman; H F Willard; L E Rosenberg
Journal:  J Clin Invest       Date:  1978-11       Impact factor: 14.808

Review 2.  Hyperhomocysteinaemia; with reference to its neuroradiological aspects.

Authors:  M van den Berg; M S van der Knaap; G H Boers; C D Stehouwer; J A Rauwerda; J Valk
Journal:  Neuroradiology       Date:  1995-07       Impact factor: 2.804

Review 3.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

4.  Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts.

Authors:  H F Willard; L E Rosenberg
Journal:  Biochem Genet       Date:  1979-02       Impact factor: 1.890

5.  Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1.

Authors:  I S Mellman; P F Lin; F H Ruddle; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1979-01       Impact factor: 11.205

6.  Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

Authors:  C Melissa Dobson; Timothy Wai; Daniel Leclerc; Aaron Wilson; Xuchu Wu; Carole Doré; Thomas Hudson; David S Rosenblatt; Roy A Gravel
Journal:  Proc Natl Acad Sci U S A       Date:  2002-11-15       Impact factor: 11.205

7.  Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.

Authors:  J F Kolhouse; C Utley; W A Fenton; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

8.  Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

Authors:  A Ribes; P Briones; M A Vilaseca; M Lluch; M Rodes; A Maya; J Campistol; P Pascual; T Suormala; R Baumgartner
Journal:  Eur J Pediatr       Date:  1990-03       Impact factor: 3.183

9.  Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.

Authors:  R Baumgartner; O Giardini; A Cantani; G Sabetta; M Castro
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

10.  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

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