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Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
J Inherit Metab Dis. 2023 Jan;46(1):43-54. doi: 10.1002/jimd.12562. Epub 2022 Oct 6.
J Inherit Metab Dis. 2023.
PMID: 36117148
Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). ...None of the siblings treated from neonatal age (n = 9; age 10 …
Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, …
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D.
Staufner C, et al.
Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25.
Genet Med. 2020.
PMID: 31761904
Free article.
PURPOSE: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systemati …
PURPOSE: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms …
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