Literature DB >> 117233

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

P Divry, M O Rolland, N Dingeon, M Mathieu, J Cotte, P Guibaud.   

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Year:  1978        PMID： 117233     DOI： 10.1007/bf01805705

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


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  16 in total

1.  Prenatal diagnosis and family studies in a case of propionicacidaemia.

Authors:  D Gompertz; P A Goodey; H Thom; G Russell; A W Johnston; D H Mellor; M W MacLean; M E Ferguson-Smith; M A Ferguson-Smith
Journal:  Clin Genet       Date:  1975-10       Impact factor: 4.438

2.  [A form of late propionic acidemia].

Authors:  P Guibaud; P Divry; G Marcon; J B Cotton; C Collombel; F Larbre
Journal:  Arch Fr Pediatr       Date:  1975-03

3.  Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.

Authors:  W B Wadlington; A Kilroy; T Ando; L Sweetman; W L Nyhan
Journal:  J Pediatr       Date:  1975-05       Impact factor: 4.406

4.  Detection of inborn errors of metabolism. II. Defects in propionic acid metabolism.

Authors:  H Z Hill; S I Goodman
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

5.  Localisation of enzymic defect in propionicacidaemia.

Authors:  D Gompertz; C N Storrs; D C Bau; T J Peters; E A Hughes
Journal:  Lancet       Date:  1970-05-30       Impact factor: 79.321

6.  Biotin-responsive propionicacidaemia.

Authors:  N D Barnes; D Hull; L Balgobin; D Gompertz
Journal:  Lancet       Date:  1970-08-01       Impact factor: 79.321

7.  Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.

Authors:  I K Brandt; Y E Hsia; D H Clement; S A Provence
Journal:  Pediatrics       Date:  1974-03       Impact factor: 7.124

8.  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

9.  Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".

Authors:  Y E Hsia; K J Scully; L E Rosenberg
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808

10.  [Glycinosis with acidocetosis of late revelation and favorable evolution].

Authors:  F Larbre; E Hartemann; P Guibaud; C Collombel; G Guerrier
Journal:  Arch Fr Pediatr       Date:  1970-05
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  3 in total

1.  Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation.

Authors:  K Bartlett; H Ng; G Dale; A Green; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

2.  Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group.

Authors:  C McKeon; R Z Eanes; B Wolf
Journal:  Biochem Genet       Date:  1982-02       Impact factor: 1.890

3.  Cell genetic studies on propionyl-CoA carboxylase deficient cell lines.

Authors:  G H Van Leeuwen; G De Vrieze; J A Gimpel; H J Huisjes; F A Hommes
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982
  3 in total

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