Literature DB >> 2738779

Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.

M Y Tsai1, D D Johnson, L Sweetman, S A Berry.   

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Year:  1989        PMID： 2738779     DOI： 10.1016/s0022-3476(89)80343-9

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


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  5 in total

1.  The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  M R Baumgartner; S Almashanu; T Suormala; C Obie; R N Cole; S Packman; E R Baumgartner; D Valle
Journal:  J Clin Invest       Date:  2001-02       Impact factor: 14.808

2.  Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.

Authors:  Y Shigematsu; I L Bykov; Y Y Liu; A Nakai; Y Kikawa; M Sudo; M Fujioka
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.

Authors:  W Lehnert; H Niederhoff; T Suormala; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

4.  3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  J L van Hove; S L Rutledge; M A Nada; S G Kahler; D S Millington
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

Authors:  C Bannwart; B Wermuth; R Baumgartner; T Suormala; U N Weismann
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  5 in total

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