First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis [PDF]
, 2015 Yongjia Yang +10 more
openalex +1 more source
Event-related potential (ERP) evidence for early visual processing differences in children and adults with Cystinosis (CTNS gene mutations) [PDF]
, 2023 Douwe J. Horsthuis +3 more
openalex +1 more source
GROWTH HORMONE (GH) TREATMENT IMPROVES HEIGHT AND HEIGHT VELOCITY (HV) IN UREMIA AND CYSTINOSIS [PDF]
, 1993 Norbert Albers +3 more
openalex +1 more source
A rare case of a patient with cystinosis and COVID-19 pneumonia with difficult weaning from mechanical ventilation: the “pocus force” [PDF]
, 2022 Luigi Vetrugno +5 more
openalex +1 more source
Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study [PDF]
, 2020 Anita Csorba +9 more
openalex +1 more source
Nephropathic cystinosis in a Chilean cohort: Clinical and genetic characterization [PDF]
, 2022 Paola Krall +6 more
openalex +1 more source
Cerebral atrophy and nephropathic cystinosis. [PDF]
, 1986 Pierre Cochat +4 more
openalex +1 more source
Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation [PDF]
, 2021 Thomas Quinaux +13 more
openalex +1 more source
A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations? [PDF]
, 2019 Julian Midgley
openalex +1 more source