Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme

Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide, though not commonly. In Europe, BD prevalence varies highly...

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Detalles Bibliográficos
Autores principales: Jezela-Stanek, Aleksandra, Suchoń, Lidia, Sobczyńska-Tomaszewska, Agnieszka, Czerska, Kamila, Kuśmierska, Katarzyna, Taybert, Joanna, Ołtarzewski, Mariusz, Sykut-Cegielska, Jolanta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140751/
https://www.ncbi.nlm.nih.gov/pubmed/35627187
http://dx.doi.org/10.3390/genes13050802

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