Molecular background and disease prevalence of biotinidase deficiency in a polish population—data based on the national newborn screening programme

HIGHLIGHTS

  • who: Aleksandra Jezela-Stanek and collaborators from the Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland have published the paper: Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme, in the Journal: Genes 2022, 13, 802. of /2022/
  • what: With the presented results, we provided novel data on the molecular phenotype and clinical course of biotinidase deficiency among Polish patients.
  • how: The molecular results are presented in Table 1.

SUMMARY

    Molecular . . .

     

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