High frequency of biotinidase deficiency in Italian population identified by newborn screening

Molecular Genetics and Metabolism Reports - Tập 25 - Trang 100689 - 2020
Silvia Funghini1, Rodolfo Tonin2, Sabrina Malvagia1, Anna Caciotti2, Maria Alice Donati3, Amelia Morrone2,4, Giancarlo la Marca1,5
1Newborn Screening, Biochemical & Pharmacology Lab, Clinic of Paediatric Neurology, A. Meyer Children's Hospital, Firenze, Italy
2Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Firenze, Italy
3Metabolic and Muscular Unit, Meyer Childrens' Hospital, Firenze, Italy
4Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy
5Department of Experimental Clinical and Biomedical Sciences, University of Florence, Firenze, Italy

Tài liệu tham khảo

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Molecular Genetics and Metabolism Reports

Tập 25

100689

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