Results 21 to 30 of about 2,360 (185)

Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned [PDF]

Frontiers in Pediatrics
Cystinosis is a rare, autosomal recessive disorder that results in a build up of the amino acid cystine in the body ( 1). With early diagnosis and advances in patient prognosis over the years, this has led to an increasing number of adolescents and ...
Brianna Borsheim, Andrew Vissing, Andrew Vissing, Cybele Ghossein, Cybele Ghossein   +4 more
doaj   +2 more sources

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Ophthalmology and Therapy, 2018
Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
João Pedro Marques, Hong Liang
exaly   +3 more sources

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants. [PDF]

Pediatr Nephrol, 2023
Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M.   +18 more
europepmc   +3 more sources

Genetic Landscape of Nephropathic Cystinosis in Russian Children. [PDF]

Front Genet, 2022
Savostyanov KV, Pushkov AA, Shchagina OA, Maltseva VV, Suleymanov EA, Zhanin IS, Mazanova NN, Fisenko AP, Mishakova PS, Polyakov AV, Balanovska EV, Zinchenko RA, Tsygin AN.   +12 more
europepmc   +2 more sources

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

Cells, 2021
Quinaux T, Bertholet-Thomas A, Servais A, Boyer O, Vrillon I, Hogan J, Lemoine S, Gaillard S, Alioli C, Vasseur S, Acquaviva C, Peyruchaud O, Machuca-Gayet I, Bacchetta J.   +13 more
europepmc   +3 more sources

Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report [PDF]

Journal of Medical Case Reports, 2009
Introduction We report an unusual and interesting case of a 24-year-old woman with nephropathic cystinosis in association with concomitant isolated noncompaction of the left ventricle. Left ventricular noncompaction usually presents with reduced exercise
Ahmed Ibrar, Phan Thanh, Lipkin Graham W, Frenneaux Michael   +3 more
doaj   +6 more sources

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis. [PDF]

Br J Ophthalmol, 2023
Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C.   +5 more
europepmc   +3 more sources

Ocular Involvement in Patients with Infantile Nephropathic Cystinosis. [PDF]

Turk J Ophthalmol
Üzüm S, Bozkurt Oflaz A, Guluzade S, Tınkır Kayıtmazbatır E, Bozkurt B.   +4 more
europepmc   +3 more sources

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

Pediatr Nephrol
Joseph MW, Stein DR, Stein AC.
europepmc   +3 more sources

Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom. [PDF]

BMC Nephrol, 2023
Lashilola S, Xu W, Azimpour K, McCarthy M, Carlot S, Game D, van der Voort J.   +6 more
europepmc   +3 more sources