Literature DB >> 4852378

In vitro "responsive" methylmalonic acidemia: a new variant.

C I Kaye, G Morrow, H L Nadler.   

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Year:  1974        PMID: 4852378     DOI: 10.1016/s0022-3476(74)80285-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  8 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

2.  Methylmalonic acidemia.

Authors:  I Matsuda; T Terashima; J Yamamoto; I Akaboshi; S Shinozuka; S Hattori; N Nagata; Y Oka
Journal:  Eur J Pediatr       Date:  1978-07-03       Impact factor: 3.183

3.  Evaluation of cofactor responsiveness.

Authors:  J V Leonard; P Daish
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

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.  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

Review 6.  [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].

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

7.  Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

Authors:  R A Gravel; M J Mahoney; F H Ruddle; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1975-08       Impact factor: 11.205

8.  Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.

Authors:  Fatemeh Keyfi; Mohammad Reza Abbaszadegan; Arndt Rolfs; Slobodanka Orolicki; Morteza Moghaddassian; Abdolreza Varasteh
Journal:  Cell Mol Biol Lett       Date:  2016-07-28       Impact factor: 5.787

  8 in total

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