Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature

Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on CBS that leads to impaired conversion of homocysteine (Hcy) to cystathionine. Marked hyperhomocysteinemia is the hallmark of the disease. The administration of pyridoxine, the natural...

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Detalles Bibliográficos
Autores principales: Candela, Egidio, Zagariello, Michele, Di Natale, Valeria, Ortolano, Rita, Righetti, Francesca, Assirelli, Valentina, Biasucci, Giacomo, Cassio, Alessandra, Pession, Andrea, Baronio, Federico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9955056/
https://www.ncbi.nlm.nih.gov/pubmed/36832525
http://dx.doi.org/10.3390/children10020396

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