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pro vyhledávání: '"Érico Higino deCarvalho"'
Autor:
Maria Helena Vaisbich, Antônio César Paulillo deCillo, Bárbara Campolina C. Silva, Catarina Brasil DÁlva, Érico Higino deCarvalho, Juliana M. C. M. deAlmeida, Larissa L. M. Marques, Marcia Ribeiro, Mauro Borghi M. daSilva, Paula Frassinetti V. deMedeiros, Pedro Henrique Mendes
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency. XLH manifests in early life with rickets and
Externí odkaz:
https://doaj.org/article/3c8efe5215c6439597c9b649d5dee314
