Associated Papers
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner K et al.
Cells, 2022
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Emma F et al.
Kidney International, 2021
Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis.
Jamalpoor A et al.
Embo Molecular Medicine, 2021
Testicular function in males with infantile nephropathic cystinosis.
Rohayem J et al.
Human Reproduction (oxford, England), 2021
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
Fleige T et al.
European Journal of Human Genetics : Ejhg, 2020
Molecular based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner K et al.
Molecular Genetics and Metabolism Reports, 2019
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report.
Elmonem MA et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2018
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis.
Wilmer MJ et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Wamelink MM et al.
Human Mutation, 2008
The molecular basis of Dutch infantile nephropathic cystinosis.
Heil SG et al.
Nephron, 2001
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
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