Results 131 to 140 of about 2,800 (183)

Nephropathic infantile cystinosis [PDF]

, 2020
openaire   +1 more source

Switching from immediate- to extended-release cysteamine in patients with nephropathic cystinosis: from clinical trials to clinical practice. [PDF]

Clin Kidney J
Ariceta G, Santos F, López Muñiz A, Hermida A, Matoses ML, Ventura A, Martin-Moreno PL, González E, Acuña L, Giner E, Vara J.   +10 more
europepmc   +1 more source

Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis. [PDF]

J Am Soc Nephrol, 2020
Veys KRP, Elmonem MA, Van Dyck M, Janssen MC, Cornelissen EAM, Hohenfellner K, Prencipe G, van den Heuvel LP, Levtchenko E.   +8 more
europepmc   +1 more source

Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years. [PDF]

Pediatr Nephrol
Brügelmann M, Müller S, Bohlen AV, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Kanzelmeyer N, Oh J, Billing H, Gellermann J, Müller D, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Žebec MS, Haffner D, Zivicnjak M.   +19 more
europepmc   +1 more source

Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis. [PDF]

Saudi J Ophthalmol, 2020
Al Abdulsalam O.
europepmc   +1 more source

Hierarchical processing of visual stimuli in nephropathic cystinosis. [PDF]

J Inherit Metab Dis, 2019
Sathappan A, Trauner D.
europepmc   +1 more source

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Distal myopathy in nephropathic cystinosis

Pediatric Nephrology, 2000
In long-standing nephropathic cystinosis complications are observed in various organs. Distal myopathy was first described in detail in 1994. The prevalence was calculated to be 24%. We studied seven patients with nephropathic cystinosis with neurophysiological techniques. Only two patients complained of a distal muscle weakness but all showed signs of
Gisela Offner, J Brodehl
exaly   +3 more sources

Clinical myopathy in patients with nephropathic cystinosis [PDF]

Muscle and Nerve, 2020
BackgroundNephropathic cystinosis is a lysosomal storage disorder. Patient survival years after renal transplantation has revealed systemic complications including distal myopathy and dysphagia.MethodsWe evaluated 20 adult patients with nephropathic ...
Florian S Eichler, Maya Doyle, Natalie R Grant   +2 more
exaly   +2 more sources

Cysteamine Therapy for Children with Nephropathic Cystinosis

New England Journal of Medicine, 1987
We treated 93 children with nephropathic cystinosis with oral cysteamine (mean dose, 51.3 mg per kilogram of body weight per day) for up to 73 months. This agent is known to be effective in depleting cells of cystine. In our study, the mean cystine depletion from leukocytes was 82 percent.
William A Gahl, Joseph D. Schulman, Jerry A. Schneider   +2 more
exaly   +3 more sources

Swallowing dysfunction in patients with nephropathic cystinosis [PDF]

Molecular Genetics and Metabolism, 2019
Contains fulltext : 204247.pdf (Publisher’s version ) (Open Access)INTRODUCTION: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene.
Mirian Janssen, M C H Janssen
exaly   +2 more sources