Literature DB >> 7707701

First trimester prenatal exclusion of biotinidase deficiency.

R A Chalmers1, J Mistry, P W Docherty, D Stratton.   

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Year:  1994        PMID： 7707701     DOI： 10.1007/bf00712020

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


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  2 in total

1.  Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.

Authors:  E R Baumgartner; T M Suormala; H Wick; A Probst; U Blauenstein; C Bachmann; M Vest
Journal:  Pediatr Res       Date:  1989-09       Impact factor: 3.756

2.  Neuropathology of biotinidase deficiency.

Authors:  M Honavar; I Janota; B G Neville; R A Chalmers
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088
  2 in total

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