Results 121 to 130 of about 1,618 (169)

An Open-Label, Phase III Study to Assess the Efficacy and Safety of Cysteamine Ophthalmic Solution 0.55% in Japanese Cystinosis Patients. [PDF]

Clin Ophthalmol
Goi N, Iwata F, Sugihara Y, Higa S, Chikama T.   +4 more
europepmc   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

Adherence to Cysteamine Therapy Among Patients Diagnosed with Cystinosis in Saudi Arabia: A Prospective Cohort Study. [PDF]

Pharmacy (Basel)
Algasem R, Zainy N, Alsabban E, Almojalli H, Alhasan K, Ali T, Broering D, Aleid H.   +7 more
europepmc   +1 more source

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

Let Food Be Thy Medicine: Potential of Dietary Management in Cystinosis.

J Am Soc Nephrol
Levtchenko E, Arcolino FO.
europepmc   +1 more source

Multimodal imaging of infantile nephropathic cystinosis

Indian Journal of Ophthalmology - Case Reports, 2021
Cystinosis is a lysosomal storage disorder characterized by cystine crystal accumulation in different parts of body including the eyes. The purpose of this article was to describe different ophthalmological abnormalities in cystinosis using multimodal ...
K. Roy, P. Sen, M. Lakshmipathy, Rajan Paul   +3 more
semanticscholar   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis

Klinische Monatsblätter für Augenheilkunde, 2022
Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. This causes dysfunction of cystinosin, a protein that transports cystine out of lysosomes, causing cystine crystals to accumulate in cells in most organ ...
F. Kruse, L. Keidel, S. Priglinger, N. Luft, Claudia S Priglinger   +4 more
semanticscholar   +3 more sources

Posterior Segment Involvement in Infantile Nephropathic Cystinosis – A Review

Klinische Monatsblätter für Augenheilkunde, 2022
Cystinosis is a rare lysosomal storage disease with a prevalence of 1 : 100 000 – 1 : 200 000 cases. It is caused by biallelic mutations in the CTNS gene, which encodes cystinosin, that transport cystine out of the lysosomes.
L. Keidel, B. Schworm, Katharina Hohenfellner, F. Kruse, Siegfried Priglinger, N. Luft, Claudia S Priglinger   +6 more
semanticscholar   +3 more sources