Literature DB >> 61476

Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts.

K Bartlett, D Gompertz.   

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Year:  1976        PMID: 61476     DOI: 10.1016/s0140-6736(76)90640-1

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


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  19 in total

1.  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

Review 2.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

3.  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

Review 4.  Enzyme studies in biotin-responsive disorders.

Authors:  K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

5.  [Reduction of biotin level as a possible factor in the mode of action of anticonvulsants (author's transl)].

Authors:  K H Krause; P Berlit; J P Bonjour
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1982

6.  The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Authors:  B H Robinson; J Oei; W G Sherwood; D Applegarth; L Wong; J Haworth; P Goodyer; R Casey; L A Zaleski
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

7.  Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases.

Authors:  B Wolf
Journal:  Biochem Genet       Date:  1979-08       Impact factor: 1.890

8.  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

9.  Organic aciduria in neonatal multiple carboxylase deficiency.

Authors:  L Sweetman; W L Nyhan; N A Sakati; A Ohlsson; M S Mange; R B Boychuk; R Kaye
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

10.  Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.

Authors:  S Packman; N Caswell; M C Gonzalez-Rios; T Kadlecek; H Cann; D Rassin; C McKay
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

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