Literature DB >> 3148078

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

C Dionisi-Vici1, C Bachmann, M C Graziani, G Sabetta.   

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Year:  1988        PMID： 3148078     DOI： 10.1007/bf01800381

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


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  1 in total

Review 1.  Inheritable biotin-treatable disorders and associated phenomena.

Authors:  L Sweetman; W L Nyhan
Journal:  Annu Rev Nutr       Date:  1986       Impact factor: 11.848
  1 in total
  3 in total

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

Authors:  A Tokatli; T Coşkun; I Ozalp; M Günay
Journal:  J Inherit Metab Dis       Date:  1992       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
  3 in total

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