Literature DB >> 4192098

Localisation of enzymic defect in propionicacidaemia.

D Gompertz, C N Storrs, D C Bau, T J Peters, E A Hughes.   

Abstract

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Year:  1970        PMID： 4192098     DOI： 10.1016/s0140-6736(70)91216-x

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  28 in total

1.  Propionyl-CoA-carboxylase determination: study of enzyme parameters in cultured skin fibroblasts from enzyme-deficient and normal subjects.

Authors:  P Divry; M O Rolland; N Dingeon; M Mathieu; J Cotte; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

Authors:  R A Gravel; K F Lam; K J Scully; Y Hsia
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

3.  Clinical outcome and long-term management of 17 patients with propionic acidaemia.

Authors:  S B van der Meer; F Poggi; M Spada; J P Bonnefont; H Ogier; P Hubert; E Depondt; D Rapoport; D Rabier; C Charpentier; P Parvy; J Bardet; P Kamoun; J M Saudubray
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

Review 4.  Food intolerance in humans.

Authors:  R H Herman; L Hagler
Journal:  West J Med       Date:  1979-02

5.  The distribution of 17 carbon fatty acids in the liver of a child with propionicacidaemia.

Authors:  D Gompertz
Journal:  Lipids       Date:  1971-08       Impact factor: 1.880

6.  Propionicacidaemia in twins.

Authors:  F Cockburn; M D Cohen; J A Darling; M Giles; R A Harkness; A D Nicol
Journal:  Arch Dis Child       Date:  1972-08       Impact factor: 3.791

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

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

8.  3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia.

Authors:  T Ando; K Rasmussen; W L Nyhan; D Hull
Journal:  Proc Natl Acad Sci U S A       Date:  1972-10       Impact factor: 11.205

9.  Organic aciduria. Treatable cause of floppy infant syndrome.

Authors:  B R Keeton
Journal:  Arch Dis Child       Date:  1976-08       Impact factor: 3.791

10.  Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.

Authors:  F Kalousek; M D Orsulak; L R Rosenberg
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025
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