Results 141 to 150 of about 1,953 (203)

Fanconi Syndrome, Metabolic Bone Disease and Growth Retardation in the Child [PDF]

, 2023
Bechay, Kirollos, Chawla, Soni C., Dubé, Priyanka   +2 more
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Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis. [PDF]

J Bone Miner Res
Bechtold-Dalla Pozza S, Lemster S, Herzig N, Vill K, Dubinski I, Hohenfellner K, Interdisciplinary Cystinosis Clinic .   +6 more
europepmc   +1 more source

Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives. [PDF]

Pediatr Nephrol
Joseph MW, Stein DR, Stein AC.
europepmc   +1 more source

Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective. [PDF]

Pediatr Nephrol
Regnier M, Flammier S, Boutaba M, Ndongo AA, Servais A, Schaefer F, Levtchenko E, Bacchetta J, Bertholet-Thomas A.   +8 more
europepmc   +1 more source

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy. [PDF]

Int J Mol Sci, 2020
Machuca-Gayet I, Quinaux T, Bertholet-Thomas A, Gaillard S, Claramunt-Taberner D, Acquaviva-Bourdain C, Bacchetta J.   +6 more
europepmc   +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

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

A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis. [PDF]

Hum Vaccin Immunother, 2020
Bozan G, Kilic O, Çetin N, Kılıç Yıldırım G, Ulukapi HB, Iseri Nepesov M, Kavaz Tufan A, Dinleyici EC.   +7 more
europepmc   +1 more source

Cystinosis : the diagnosis and treatment [PDF]

, 1994
Van't Hoff, W. G
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