Results 101 to 110 of about 5,396 (203)

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome [PDF]

, 2021
Karl P. Schlingmann, François Jouret, Kuang Shen, Anukrati Nigam, Francisco J. Arjona, Claudia Dafinger, Pascal Houillier, Deborah P. Jones, Felix Kleinerüschkamp, Jun Oh, Nathalie Godefroid, Mehmet Eltan, Tülay Güran, Stéphane Burtey, Marie-Christine Parotte, Jens König, Alina Braun, Caro Bos, Maria Ibars Serra, Holger Rehmann, Fried Zwartkruis, Kirsten Y. Renkema, Karin Klingel, Eric Schulze‐Bahr, Bernhard Schermer, Carsten Bergmann, Janine Altmüller, Hölger Thiele, Bodo B. Beck, Karin Dahan, David M. Sabatini, Max C. Liebau, Rosa Vargas‐Poussou, Nine V.A.M. Knoers, Martin Konrad, Jeroen H. F. de Baaij   +35 more
openalex   +1 more source

[Autologous peripheral blood stem cell transplantation combined with bortezomib and dexamethasone for the treatment of light chain proximal tubulopathy: a case report].

, 2019
Manna Li, Liang Zhao, Xuhan Li, Houan Zhou, Xianghua Huang, Zhihong Liu, Zhen Cheng   +6 more
openalex   +2 more sources

Far di Necessità Virtù, using rare tubulopathies, Gitelman’s and Bartter’s syndromes, to inform the fight against COVID-19 [PDF]

, 2021
Lorenzo A. Calò, Paul A. Davis
openalex   +1 more source

Proximal Tubulopathy [PDF]

, 2020
openaire   +1 more source

Is hyperammonemia helpful in detecting syndromic tubulopathies with early extrarenal manifestations? A case report of Lowe’s syndrome

Egyptian Pediatric Association Gazette
Background Generally, it is not well known that Lowe’s syndrome may coexist with hyperammonemia and hipocarnitynemia. The importance of hyperammonemia in the diagnosis of kidney diseases is not completely understood.
Agnieszka Jędzura, Monika Dębowska, Piotr Adamczyk   +2 more
doaj   +1 more source

Aminoaciduria in the prediction of ifosfamide-induced tubulopathy after childhood cancer: a feasibility study [PDF]

, 2016
Jessica E. Morgan, Karl McKeever, Kay Tyerman, Michael W. Henderson, Susan Picton, Bob Phillips   +5 more
openalex   +1 more source

Hypokalaemic salt-losing tubulopathies: an evolving story [PDF]

, 2003
Israel Zelikovic
openalex   +1 more source

Tubulopathies

, 2021
Riedhammer, KM, Schmaderer, C, Heemann, U, Bockenhauer, D   +3 more
openaire   +1 more source

Primary tubulopathies

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2018
I. M. Osmanov, I. N. Zakharova, O. B. Kolbe, E. B. Mumladze, G. B. Bekmurzaeva, E. V. Tambieva   +5 more
openaire   +2 more sources

Outcome of primary tubular tubulopathies diagnosed in pediatric age

, 2021
Cristina Julia Blázquez Gómez, Helena Gil‐Peña, Flor Ángel Ordóñez Álvarez, Fernando Santos Rodríguez   +3 more
openalex   +1 more source