Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00467-022-05732-w.pdf
Reference37 articles.
1. Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E, Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN (2021) Cystinuria: clinical practice recommendation. Kidney Int 99:48–58. https://doi.org/10.1016/j.kint.2020.06.035
2. Knoll T, Zöllner A, Wendt-Nordahl G, Michel MS, Alken P (2005) Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up. Pediatr Nephrol 20:19–24. https://doi.org/10.1007/s00467-004-1663-1
3. Claes DJ, Jackson E (2012) Cystinuria: mechanisms and management. Pediatr Nephrol 27:2031–2038. https://doi.org/10.1007/s00467-011-2092-6
4. Ahmed K, Dasgupta P, Khan MS (2006) Cystine calculi: challenging group of stones. Postgrad Med J 82:799–801. https://doi.org/10.1136/pgmj.2005.044156
5. Assimos DG, Leslie SW, Ng C, Streem SB, Hart LJ (2002) The impact of cystinuria on renal function. J Urol 168:27–30
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