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 <i>CBS</i> that leads to impaired conversion of homocysteine (Hcy) to cystathionine. Marked hyperhomocysteinemia is the hallmark of the disease. The administration of pyridoxine, the n...

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Autori principali:	Egidio Candela, Michele Zagariello, Valeria Di Natale, Rita Ortolano, Francesca Righetti, Valentina Assirelli, Giacomo Biasucci, Alessandra Cassio, Andrea Pession, Federico Baronio
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2023-02-01
Serie:	Children
Soggetti:	expanded newborn screening homocysteine hypermethioninemia pyridoxine diet betaine
Accesso online:	https://www.mdpi.com/2227-9067/10/2/396
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