Results 101 to 110 of about 1,618 (169)

Cystinosis : the diagnosis and treatment [PDF]

, 1994
Van't Hoff, W. G
core  

Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives. [PDF]

Kidney Int Rep
Golestaneh L, Ames EG, Doyle MH, Ghossein C, Grimm PC, Hewlett JL, Lim A, Marzinelli LS, Schmidt KJ, Smeryage B, Zaritsky JJ, Kaskel FJ.   +11 more
europepmc   +1 more source

MP854ARTHROPATHY IN PATIENTS WITH INFANTILE NEPHROPATHIC CYSTINOSIS AND A POTENTIAL PHENOTYPIC ASSOCIATION WITH THE C.473T>C MUTATION

, 2017
D. Stewart, J. Patterson, I. Ramage, B. Reynolds   +3 more
semanticscholar   +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

Shimmering Clarity: A Rare Case Report of Ocular Cystinosis. [PDF]

Case Rep Ophthalmol
Angadi AM, Jakhalu K, Mushtaq I, Shah S.
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

Novel truncating mutation in the CTNS gene in an Egyptian family with cases of infantile nephropathic cystinosis and congenital heart malformations

, 2012
Mohammad Al-Haggar, A. Taranta, Amany El-Hawary, Afaf Al-Said, A. Shaban, Y. Wahba   +5 more
semanticscholar   +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

Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old:  A case report. [PDF]

Med Int (Lond)
Choudhary DS, Shaheen J, Kala R, Dhakad A, Kalal BS.   +4 more
europepmc   +1 more source