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Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
Seker Yilmaz, Berna; Mungan, Neslihan Onenli; Kor, Deniz; Bulut, Derya; Seydaoglu, Gülsah; Öktem, Murat; Ceylaner, Serdar.
Affiliation
  • Seker Yilmaz B; Department of Pediatric Metabolism, Mersin City Hospital, Mersin, Turkey, Phone: +905439699013, Fax: +903223386931.
  • Mungan NO; Department of Pediatric Metabolism, University Hospital Cukurova, Adana, Turkey.
  • Kor D; Department of Pediatric Metabolism, University Hospital Cukurova, Adana, Turkey.
  • Bulut D; Department of Pediatric Metabolism, University Hospital Cukurova, Adana, Turkey.
  • Seydaoglu G; Department of Pediatric Metabolism, University Hospital Cukurova, Adana, Turkey.
  • Öktem M; Department of Biostatistics, University Hospital Cukurova, Adana, Turkey.
  • Ceylaner S; Duzen Biochemistry Laboratories, Ankara, Turkey.
J Pediatr Endocrinol Metab ; 31(3): 339-343, 2018 Mar 28.
Article in En | MEDLINE | ID: mdl-29353266
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biotinidase Deficiency / Biotinidase / Mutation Limits: Humans / Newborn Country/Region as subject: Asia Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2018 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biotinidase Deficiency / Biotinidase / Mutation Limits: Humans / Newborn Country/Region as subject: Asia Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2018 Document type: Article Country of publication: