Results 211 to 220 of about 9,344 (281)

Giant cell transformation of podocytes: A unique histological feature associated with cystinosis

, 2011
AK Dinda, Alok Sharma, Ruchika Gupta, SK Sethi, A Bagga   +4 more
openalex   +1 more source

Fanconi Syndrome, Metabolic Bone Disease and Growth Retardation in the Child [PDF]

, 2023
Bechay, Kirollos, Chawla, Soni C., Dubé, Priyanka   +2 more
core  

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

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   +1 more source

Cystinosis with Sclerotic Bone Lesions

, 2013
Sandra Sirrs, Peter L. Munk, Paul I. Mallinson, Hugue A. Ouellette, Gabriella Horváth, Sandra K. Cooper, Gerald da Roza, David Rosenbaum, M. O’Riley, G. Nussbaumer, L. N. Hoang, C. H. Lee   +11 more
openalex   +2 more sources

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

Editorial: Model organisms in predictive toxicology 2023. [PDF]

Front Pharmacol
Luceri C, Dogan A, León-Buitimea A.
europepmc   +1 more source

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening. [PDF]

Genes (Basel)
Bzdok J, Czibere L, Burggraf S, Pauly N, Maier EM, Röschinger W, Becker M, Durner J.   +7 more
europepmc   +1 more source

Diagnostic Performance of Publicly Available Large Language Models in Corneal Diseases: A Comparison with Human Specialists. [PDF]

Diagnostics (Basel)
Jiao C, Rosas E, Asadigandomani H, Delsoz M, Madadi Y, Raja H, Munir WM, Tamm B, Mehravaran S, Djalilian AR, Yousefi S, Soleimani M.   +11 more
europepmc   +1 more source