Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Carmen Jane Trujillo-Frias"'
Autor:
Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8455 (2023)
Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting in low urate serum levels and increased urate excretion. Some patients may present severe complications such as exerc
Externí odkaz:
https://doaj.org/article/4064d2edf06542178907c425851840cc
Autor:
Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín
Publikováno v:
Biomedicines, Vol 11, Iss 11, p 3082 (2023)
Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. Two-thirds of cases are associated with inactivating variants in th
Externí odkaz:
https://doaj.org/article/d59d48ceb3a14c878737d67eef52046f