Literature DB >> 8283357

Infantile spasms as the initial symptom of biotinidase deficiency.

O Kalayci1, T Coskun, A Tokatli, E Demir, G Erdem, C Güngör, A Yükselen, I Ozalp.   

Abstract

Two patients with biotinidase deficiency had diagnoses of infantile spasms made at 1 month of age. Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms.

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Year:  1994        PMID: 8283357     DOI: 10.1016/s0022-3476(94)70263-2

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


  3 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

Review 2.  Metabolic etiologies in West syndrome.

Authors:  Seda Salar; Solomon L Moshé; Aristea S Galanopoulou
Journal:  Epilepsia Open       Date:  2018-03-14

3.  Current trends in the treatment of infantile spasms.

Authors:  Chang-Yong Tsao
Journal:  Neuropsychiatr Dis Treat       Date:  2009-05-20       Impact factor: 2.570

  3 in total

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