Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
about
Cystinosis: a reviewQuantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouseWhole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.Cystinosis: practical tools for diagnosis and treatmentCysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults.Emerging role of autophagy in kidney function, diseases and agingCystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria.Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report.Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam.Slow progression of renal failure in a child with infantile cystinosis.Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.Natural history of adolescent-onset cystinosis.Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.
P2860
Q26751225-02A5CB76-E1CF-4B31-A501-322CF3CDA059Q28506311-E2E7EF43-E50B-42EB-BE75-DC7C800A565EQ30375178-8D426D8C-F2C0-4622-969B-78A4D529E080Q34467739-B2658BB2-52BD-418F-8DB3-3D18EEE18556Q35119039-1FA3E4D3-24B7-4F85-9F1D-FBB9684198C1Q36194753-F4BC564E-C9D3-4DA3-B16D-0609D73414B4Q37322021-283A3497-69B7-48D4-BD73-11C4BDD9FE14Q37786450-D1B8FD9E-911C-46BE-A3FB-7C3FDA5761E4Q40033924-06CF5B2B-2A05-4211-8650-01221D4B3ACEQ41670423-1352FEB4-77AC-4617-AC96-4BBC076C8071Q46770028-4F2AD226-C03C-4316-A385-F4CDFB9C6AA1Q49991100-9DB01ECF-2932-4D12-8A78-8698DF2E3E41Q50041416-E12655D7-FD7A-4EED-8E9F-242F77C74948Q51035036-3BA4FFC9-078E-4410-A6D8-62ED30E25537Q52624159-35EE0762-0064-4267-B6E6-C3B6E693A680
P2860
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
@ast
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
@en
type
label
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
@ast
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
@en
prefLabel
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
@ast
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
@en
P2093
P2860
P50
P356
P1476
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
@en
P2093
Bernadette Chadefaux-Vekemans
Jean-Pierre Grünfeld
Laure-Hélène Noël
P2860
P356
10.2215/CJN.01740407
P577
2008-01-01T00:00:00Z