Results 181 to 190 of about 7,637 (215)

Editorial: Special Issue "Genetic Newborn Screening". [PDF]

Genes (Basel)
Nishio H, Awano H.
europepmc   +1 more source

Cystinosis metabolic bone disease: inflammatory profile in human peripheral blood mononuclear cells and derived osteoclasts. [PDF]

Eur J Pediatr
Alioli C, Greco M, Méaux MN, Harambat J, Topaloglu R, Nobili F, Bertholet-Thomas A, Rousset-Rouviere C, Portefaix A, Dumortier C, Emma F, Machuca-Gayet I, Bacchetta J.   +12 more
europepmc   +1 more source

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

Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis. [PDF]

Mol Cell Biol
Rahman F, Johnson JL, Ait Kbaich M, Meneses-Salas E, Shukla A, Chen D, Kiosses WB, Gavathiotis E, Cuervo AM, Cherqui S, Catz SD.   +10 more
europepmc   +1 more source

Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study. [PDF]

Medicina (Kaunas)
Dickson K, Wu HHL, Sharma R, Stepien KM, Jovanovic A, Chinnadurai R.   +5 more
europepmc   +1 more source

Combined liver and kidney transplantation with particular reference to positive cytotoxic crossmatches [PDF]

, 1989
Fung, J, Gordon, R, Griffin, M, Klintmalm, G, Makowka, L, Starzl, TE, Todo, S, Tzakis, A   +7 more
core  

Lysosomal reduced thiols are essential for mouse embryonic development. [PDF]

Proc Natl Acad Sci U S A
Adelmann CH, Venkatachalam A, Huang L, Liu M, Germana S, Harry SA, Rosen PC, Herron J, Tien PC, Bar-Peled L, Sabatini DM, Fisher DE.   +11 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

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification. [PDF]

Front Genet
Wu CW, Tomaszewski A, Stark L, Scaglia F, Elenberg E, Schumaker FR.   +5 more
europepmc   +1 more source