Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Victor Garcia-Nieto"'
Publikováno v:
Kidney Research and Clinical Practice, Vol 40, Iss 4, Pp 512-526 (2021)
In the kidney, a set of proteins expressed in the epithelial cells of the thick ascending loop of Henle and the distal convoluted tubule directly or indirectly play important roles in the regulation of serum magnesium levels. Magnesium reabsorption i
Externí odkaz:
https://doaj.org/article/a4f0f70a65a44018b161bfc5a314792c
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:
Francisco H. Negrete-Pedraza, Víctor Garcia-Nieto, Carlos A. Castro-Fuentes, Omar E. Valencia-Ledezma
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background Altitude influences bicarbonate levels, it is a variable that is hardly considered in diagnosing Renal Tubular Acidosis (RTA), so it should be a factor to consider when diagnosing this pathology, especially at 2250 mts over the se
Externí odkaz:
https://doaj.org/article/670db1e24dc14d88b97fae40c18091c3
Autor:
Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Jose David Machado, Victor García-Nieto, Glorián Mura-Escorche, Félix Claverie-Martin
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8110 (2024)
Dent disease-1 (DD-1) is a rare X-linked tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and nephrocalcinosis. This disease is caused by inactivating mutations in the CLCN5 gene which encodes
Externí odkaz:
https://doaj.org/article/153394579152420f85b286faae3e3513
Autor:
Elena, Ramos-Trujillo, Felix, Claverie-Martin, Victor, Garcia-Nieto, Gema, Ariceta, Julia, Vara, Hilaria, Gonzalez-Acosta, Marta, Garcia-Ramirez, Jaime, Fons, Elizabeth, Cordoba-Lanus, Javier, Gonzalez-Paredes, Blanca, Valenciano, Leticia, Ramos, Rafael, Muley, Marina, Caggiani, Pilar, Alvarez-Estrada, Alvaro, Madrid
Publikováno v:
Journal of pediatric genetics. 2(3)
Dent's disease is an X-linked proximal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This disorder is frequently caused by mutations in the CLCN5 gene e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e02a0adb43a6e1db2e068f938d94cdab
https://pubmed.ncbi.nlm.nih.gov/27625851
https://pubmed.ncbi.nlm.nih.gov/27625851
Autor:
Victor Garcia-Nieto, Manuel Morales
Publikováno v:
Oncology. 53:345-348
Two cases of hypouricemia in association with malignant diseases are presented. One patient had metastatic breast cancer and the other an undifferentiated retroperitoneal sarcoma of the childhood. Uric acid renal handling was studied with the pyrazin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79eee663cd5767fc4515fc3d76f43a50
https://doi.org/10.1159/000227585
https://doi.org/10.1159/000227585
La vitamina D y su receptor. Reflexiones sobre la inusitada tendencia a crear supuestas enfermedades
Publikováno v:
Anales de Pediatría, Vol 92, Iss 3, Pp 167-168 (2020)
Externí odkaz:
https://doaj.org/article/2af0c71729654170a1ed609187313b1e
Publikováno v:
Anales de Pediatría (English Edition), Vol 92, Iss 3, Pp 167-168 (2020)
Externí odkaz:
https://doaj.org/article/8189c821c7794809a3ae37df9a0fec25
Autor:
Félix Claverie-Martín, Víctor García-Nieto, Cesar Loris, Gema Ariceta, Inmaculada Nadal, Laura Espinosa, Ángeles Fernández-Maseda, Montserrat Antón-Gamero, Africa Avila, Álvaro Madrid, Hilaria González-Acosta, Elizabeth Córdoba-Lanus, Fernando Santos, Marta Gil-Calvo, Mar Espino, Elena García-Martinez, Ana Sanchez, Rafael Muley, RenalTube Group
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e53151 (2013)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the C
Externí odkaz:
https://doaj.org/article/2c3ebfb9b36c483bb8d72f29164232c0
Autor:
Félix Claverie-Martín, Víctor García-Nieto, Cesar Loris, Gema Ariceta, Inmaculada Nadal, Laura Espinosa, Ángeles Fernández-Maseda, Montserrat Antón-Gamero, África Avila, Álvaro Madrid, Hilaria González-Acosta, Elizabeth Córdoba-Lanus, Fernando Santos, Marta Gil-Calvo, Mar Espino, Elena García-Martinez, Ana Sanchez, Rafael Muley
Publikováno v:
PLoS ONE, Vol 8, Iss 10 (2013)
Externí odkaz:
https://doaj.org/article/1552117235a14ab3833cbe4a2ee7ddaf