Results 101 to 110 of about 7,637 (215)

Cerebral atrophy and nephropathic cystinosis. [PDF]

, 1986
Pierre Cochat, Robert H. Drachman, Marie‐France Gagnadoux, D. Pariente, M. Broyer   +4 more
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Event-related potential (ERP) evidence for early visual processing differences in children and adults with Cystinosis (CTNS gene mutations) [PDF]

, 2023
Douwe J. Horsthuis, Sophie Molholm, John J. Foxe, Ana A. Francisco   +3 more
openalex   +1 more source

Urinary proteome pattern in children with renal Fanconi syndrome [PDF]

, 2017
Background. The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria.
Drube, Jens, Ehrich, Jochen H. H., Kemper, Markus J., Lichtinghagen, Ralf, Mischak, Harald, Neuhaus, Thomas, Pape, Lars, Schiffer, Eric   +7 more
core  

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis [PDF]

, 2015
Yongjia Yang, Yuan Hu, Rui Zhao, Xinyu He, Zhao Liu, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yimin Zhu   +10 more
openalex   +1 more source

Long-term follow-up of cystinosis patients treated with 0.55% cysteamine hydrochloride [PDF]

, 2020
Hong Liang, Antoine Labbé, Christophe Baudouin, Céline Plisson, Vincenzo Giordano   +4 more
openalex   +1 more source

Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study [PDF]

, 2020
Anita Csorba, Erika Maka, Otto Alexander Maneschg, Attila J. Szabó, Nóra Szentmáry, Mária Csidey, Miklós Resch, László Imre, Krisztina Knézy, Zoltán Zsolt Nagy   +9 more
openalex   +1 more source

A rare case of a patient with cystinosis and COVID-19 pneumonia with difficult weaning from mechanical ventilation: the “pocus force” [PDF]

, 2022
Luigi Vetrugno, Valentina Angelini, Simone Antonio Smiraglia, Elisabetta Saraceni, Pierluigi Di Giannatale, Salvatore Maurizio Maggiore   +5 more
openalex   +1 more source

Outcome after renal transplantation. Part I: Intellectual and motor performance [PDF]

, 2018
Comprehensive information on neurodevelopmental outcome in children and adolescents with chronic kidney disease is still limited. Intellectual performance (IP) and motor performance (MP) were systematically assessed in 27 patients at a median age of 14 ...
Falger, Jutta, Landolt, Markus, Latal, Bea, Laube, Guido, Lehmann, Phaedra, Neuhaus, Thomas   +5 more
core  

A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations? [PDF]

, 2019
Julian Midgley
openalex   +1 more source

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation [PDF]

, 2021
Thomas Quinaux, Aurélia Bertholet‐Thomas, Aude Servais, Olivia Boyer, Isabelle Vrillon, Julien Hogan, Sandrine Lemoine, Ségolène Gaillard, Candide Alioli, Sophie Vasseur, Cécile Acquaviva, Olivier Peyruchaud, Irma Machuca‐Gayet, Justine Bacchetta   +13 more
openalex   +1 more source