Literature DB >> 1592565

Biotinidase deficiency: a rare cause of laryngeal stridor.

M Ataman1, B Sözeri, I Ozalp.   

Abstract

A case of a child with a biotinidase deficiency who had a laryngeal stridor as a leading symptom is presented. This rare disease is distressing for diagnosis but easily treatable, if recognized. This condition, unless suspect clinically, could easily be overlooked and unnecessary tracheotomy could be done.

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Year:  1992        PMID: 1592565     DOI: 10.1016/0165-5876(92)90111-2

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN: 0165-5876            Impact factor:   1.675


  1 in total

1.  Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.

Authors:  Shrinivas Desai; Karthik Ganesan; Anaita Hegde
Journal:  Pediatr Radiol       Date:  2008-06-11
  1 in total

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