Literature DB >> 1527996

The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor.

A Tokatli1, T Coşkun, I Ozalp, M Günay.   

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Year:  1992        PMID： 1527996     DOI： 10.1007/bf01799644

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


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  1 in total

1.  Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.

Authors:  C Dionisi-Vici; C Bachmann; M C Graziani; G Sabetta
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982
  1 in total
  4 in total

1.  Novel mutations cause biotinidase deficiency in Turkish children.

Authors:  R J Pomponio; T Coskun; M Demirkol; A Tokatli; I Ozalp; G Hüner; T Baykal; B Wolf
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

2.  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

3.  Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.

Authors:  Trevor L Hoffman; Erin M Simon; Can Ficicioglu
Journal:  Eur J Pediatr       Date:  2005-02-15       Impact factor: 3.860

4.  Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.

Authors:  Sevgin Özlem Işeri-Erten; Zeliha Günnur Dikmen; Nuriye Nuray Ulusu
Journal:  J Med Biochem       Date:  2016-05-09       Impact factor: 3.402
  4 in total

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