Literature DB >> 6848914

Deficient biotinidase activity in late-onset multiple carboxylase deficiency.

B Wolf, R E Grier, W D Parker, S I Goodman, R J Allen.   

Abstract

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Year:  1983        PMID： 6848914     DOI： 10.1056/NEJM198301203080321

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  20 in total

1.  Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.

Authors:  T M Suormala; E R Baumgartner; H Wick; S Scheibenreiter; S Schweitzer
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Metabolic syndromes with dermatologic manifestations.

Authors:  M Irons; H L Levy
Journal:  Clin Rev Allergy       Date:  1986-02

3.  Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.

Authors:  C Erasmus; L J Mienie; C J Reinecke; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1985       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.  Biotinidase deficiency: clinical course and biochemical findings.

Authors:  G Schubiger; U Caflisch; R Baumgartner; T Suormala; C Bachmann
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

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.  Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.

Authors:  C Jakobs; L Sweetman; W L Nyhan; S Packman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

9.  Pyruvate carboxylase deficiency.

Authors:  K Bartlett; H K Ghneim; J H Stirk; G Dale; K G Alberti
Journal:  J Inherit Metab Dis       Date:  1984       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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