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1.
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Kidney Int
; 100(5): 1112-1123, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34237326
2.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
J Am Soc Nephrol
; 28(8): 2529-2539, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28373276
3.
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
J Inherit Metab Dis
; 38(2): 211-9, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25595726
4.
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
Pediatr Nephrol
; 27(4): 581-8, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22101457
5.
Conservative treatment for uncomplicated appendicitis in children: the CONTRACT feasibility study, including feasibility RCT.
Health Technol Assess
; 25(10): 1-192, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33630732
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