Results 71 to 80 of about 1,339 (134)

Treatment of corneal cystine crystal accumulation in patients with cystinosis

Clinical Ophthalmology, 2014
Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F, Livingstone I, Oladiwura D, Ramaesh K   +3 more
doaj  

Infantile nephropathic cystinosis [PDF]

, 2007
Michael B. Stokes, Stephanie Jernigan, Vivette D. D’Agati   +2 more
openalex   +1 more source

Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease

, 2021
Filipa Urbano, Catarina Salgado, Inês Leal, Laura Vilarinho, Carla Simão   +4 more
openalex   +2 more sources

#1443 Bone and mineral metabolism in patients with nephropathic cystinosis as a function of age and eGFR

Nephrology, Dialysis and Transplantation
Cystinosis-associated metabolic bone disease (CMBD) is a major challenge in the treatment of patients with infantile nephropathic cystinosis (NC).
Johannes Lahring, M. Leifheit-Nestler, N. Herzig, Jun Oh, Anja K. Büscher, J. Thumfart, Lutz T Weber, K. Arbeiter, B. Acham-Roschitz, B. Tönshoff, Katharina Hohenfellner, D. Haffner   +11 more
semanticscholar   +1 more source

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

, 2007
Ekaterini Tsilou, Min Zhou, William A. Gahl, Pamela C. Sieving, Chi‐Chao Chan   +4 more
openalex   +1 more source

Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation. [PDF]

Int J Mol Sci, 2023
Thiyagarajan R, Taub M.
europepmc   +1 more source

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

Front Pediatr
Borsheim B, Vissing A, Ghossein C.
europepmc   +1 more source

Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care. [PDF]

Kidney Int Rep
Elenberg E.
europepmc   +1 more source

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins. [PDF]

J Cachexia Sarcopenia Muscle
Medaer L, Mora R, Zhou Z, Giarratana N, Yedigaryan L, La Rovere R, Levtchenko E, Mouly V, Verhoeyen E, Eeltink S, Treumann A, Vervliet T, Sampaolesi M, Gijsbers R.   +13 more
europepmc   +1 more source

Cystadrops^® Eye Drops for the Management of Ocular Cystinosis in Patients Aged 6 Months to < 2 Years. [PDF]

Ophthalmol Ther
Biswas S, Casteels I, Bremond-Gignac D, Hogan J, Iarossi G.   +4 more
europepmc   +1 more source