Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Michele Zagariello"'
Autor:
Egidio Candela, Michele Zagariello, Valeria Di Natale, Rita Ortolano, Francesca Righetti, Valentina Assirelli, Giacomo Biasucci, Alessandra Cassio, Andrea Pession, Federico Baronio
Publikováno v:
Children, Vol 10, Iss 2, p 396 (2023)
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 disea
Externí odkaz:
https://doaj.org/article/6ddea534be3a4c6fb0b321597cf2d605