Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy

Frontiers in Pediatrics

Alice Maguolo¹  Martina Messina¹  Marta Camilot²  Francesca Teofoli²  Giulia Rodella³  Giorgio Piacentini⁴  Natascia Campostrini⁵  Florina Ion Popa⁵  Andrea Pasini⁵  Monica Vincenzi⁵  Irene Monge⁶  Alice Dianin⁷  Andrea Bordugo⁷  Francesca Pellegrini⁸  Grazia Molinaro⁸  Fiorenzo Lupi⁸  Erika Rigotti⁹ 

[1] Department of Mother and Child, University of Verona, Verona, Italy;Department of Mother and Child, University of Verona, Verona, Italy;Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, Verona, Italy;Department of Mother and Child, University of Verona, Verona, Italy;Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy;Department of Mother and Child, University of Verona, Verona, Italy;Pediatric Clinic Azienda Ospedaliera Universitaria Integrata (AOUI) of Verona, Verona, Italy;Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, Verona, Italy;Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy;Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy;Pediatric Clinic Azienda Ospedaliera Universitaria Integrata (AOUI) of Verona, Verona, Italy;Neonatal Intensive Care Unit, Azienda Sanitaria Alto Adige, Bolzano, Italy;Pediatric Clinic Azienda Ospedaliera Universitaria Integrata (AOUI) of Verona, Verona, Italy;

关键词: biotinidase enzymatic activity;    genotype-phenotype correlation analysis;    biotinidase deficiency incidence;    biotinidase deficiency;    newborn screening;    biotinidase deficiency disorder gene;   

DOI  :  10.3389/fped.2021.661416

来源: Frontiers

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