Literature DB >> 7264798

The neonatal form of biotin-responsive multiple carboxylase deficiency.

S Packman, L Sweetman, H Baker, S Wall.   

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Year:  1981        PMID： 7264798     DOI： 10.1016/s0022-3476(81)80333-2

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


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  12 in total

Review 1.  Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.

Authors:  Sahan P Semasinghe Bandaralage; Soheil Farnaghi; Joel M Dulhunty; Alka Kothari
Journal:  Pediatr Radiol       Date:  2016-01-11

Review 2.  Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.

Authors:  A J Michalski; G T Berry; S Segal
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 3.  The biotin-dependent carboxylase deficiencies.

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

4.  Lipid metabolism in biotin-responsive multiple carboxylase deficiency.

Authors:  M C Gonzalez-Rios; S C Whitney; M L Williams; P M Elias; S Packman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 5.  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

6.  Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.

Authors:  E Touma; T Suormala; E R Baumgartner; B Gerbaka; H Ogier de Baulny; J Loiselet
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

7.  Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.

Authors:  S Packman; S C Whitney; M Fitch; S E Fleming
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

8.  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

9.  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

10.  Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.

Authors:  B J Burri; L Sweetman; W L Nyhan
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025
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