Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases

@article{Baykal2005AsymptomaticAA,
  title={Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases},
  author={Tolunay Baykal and G{\"u}lden Gokcay and Yasemin Gokdemir and Fatma Ebru Ofluoğlu Demir and Yuksel Seckin and M{\"u}beccel Demirkol and Kristin H. Jensen and Barry Wolf},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={28},
  pages={903-912}
}
We report 32 biotinidase-deficient patients detected by family studies in the index cases. The study group consisted of 10 mothers, 4 fathers and 18 siblings. There were 17 individuals (3 mothers, 4 fathers and 10 siblings) with profound biotinidase deficiency (BD) (< 10% of mean normal activity) and 15 (7 mothers and 8 siblings) with partial BD (10–30% of mean normal activity). In the profound BD group, only three siblings were symptomatic. Dermatitis, microcephaly, developmental delay and… CONTINUE READING
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