Literature DB >> 2879965

Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.

H Kakinuma, N Ogura, A Ohtake, M Takayanagi, H Nakajima, H Kondo, H Terada, K Okuda, Y Nomoto.   

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Year:  1985        PMID： 2879965     DOI： 10.1007/bf01819303

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  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

2.  Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.

Authors:  H F Willard; L M Ambani; A C Hart; M J Mahoney; L E Rosenberg
Journal:  Hum Genet       Date:  1976-12-15       Impact factor: 4.132

3.  The natural history of the inherited methylmalonic acidemias.

Authors:  S M Matsui; M J Mahoney; L E Rosenberg
Journal:  N Engl J Med       Date:  1983-04-14       Impact factor: 91.245

4.  Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.

Authors:  L E Rosenberg; A Lilljeqvist; Y E Hsia
Journal:  Science       Date:  1968-11-15       Impact factor: 47.728
  4 in total
  1 in total

1.  Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

Authors:  Osamu Sakamoto; Toshihiro Ohura; Yoichi Matsubara; Masaki Takayanagi; Shigeru Tsuchiya
Journal:  J Hum Genet       Date:  2006-10-31       Impact factor: 3.172
  1 in total

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