Iris Schrijver

Publication Details

  • Increased incidence of profound biotinidase deficiency among Hispanic newborns in California MOLECULAR GENETICS AND METABOLISM Cowan, T. M., Kazerouni, N. N., Dharajiya, N., Lorey, F., Roberson, M., Hodgkinson, C., Schrijver, I. 2012; 106 (4): 485-487


    We report population findings from newborn screening for biotinidase deficiency in California, representing over 2,000,000 newborns. The incidence of profound deficiency was 1/73,629, higher than in other reported populations. Out of 28 patients with profound biotinidase deficiency, 19 were of Hispanic descent, suggesting an increased frequency among this group. Of the 28 patients, 23 underwent mutation analysis of the BTD gene, with one common mutation, 528G>T, found in 43.3% of Hispanic alleles tested.

    View details for DOI 10.1016/j.ymgme.2012.05.017

    View details for Web of Science ID 000307322100015

    View details for PubMedID 22698809

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