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Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 33(11)
Objectives Holocarboxylase synthetase deficiency (HCSD) (OMIM #253270) is a rare inborn error of metabolism with an estimated annual incidence of 1 in 200,000 people. Typical manifestations of HCSD include eczema, alopecia, lactic acidosis and hypera