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1.
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
J Inherit Metab Dis
; 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38802119
2.
A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants.
Kidney Int
; 103(5): 962-972, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36898413
3.
Clinical and genetic characteristics of Dent's disease type 1 in Europe.
Nephrol Dial Transplant
; 38(6): 1497-1507, 2023 05 31.
Article
in English
| MEDLINE | ID: mdl-36441012
4.
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
J Inherit Metab Dis
; 46(1): 43-54, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36117148
5.
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrol Dial Transplant
; 37(12): 2474-2486, 2022 11 23.
Article
in English
| MEDLINE | ID: mdl-35137195
6.
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testis.
J Inherit Metab Dis
; 44(6): 1393-1408, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34494673
7.
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Nephrol Dial Transplant
; 2020 Dec 26.
Article
in English
| MEDLINE | ID: mdl-33367818
8.
Flucloxacillin decreases tacrolimus blood trough levels: a single-center retrospective cohort study.
Eur J Clin Pharmacol
; 76(12): 1667-1673, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32712713
9.
Bartter and Gitelman syndromes: Questions of class.
Pediatr Nephrol
; 35(10): 1815-1824, 2020 10.
Article
in English
| MEDLINE | ID: mdl-31664557
10.
Corrigendum to "A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants." Kidney Int. 2023;103:962-972.
Kidney Int
; 105(1): 213-214, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38182294
11.
Clinical and molecular aspects of distal renal tubular acidosis in children.
Pediatr Nephrol
; 32(6): 987-996, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28188436
12.
Management dilemmas in pediatric nephrology: Cystinosis.
Pediatr Nephrol
; 30(8): 1349-60, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25956701
13.
Fibroblast growth factor 23 and calcium-phosphate metabolism in relation to cardiovascular risk factors in patients with type 1 diabetes.
J Diabetes
; 16(6): e13500, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38124483
14.
Copper deficiency in patients with cystinosis with cysteamine toxicity.
J Pediatr
; 163(3): 754-60, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23651769
15.
OHVIRA syndrome: Early recognition prevents genitourinary complications.
Ultrasound
; 31(1): 61-64, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36794112
16.
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate.
Mol Genet Metab
; 107(1-2): 234-6, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22832073
17.
Detailed studies of growth hormone secretion in cystinosis patients.
Pediatr Nephrol
; 27(11): 2123-2127, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22664570
18.
Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children.
Pediatr Nephrol
; 32(6): 1095, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28258487
19.
Cysteamine toxicity in patients with cystinosis.
J Pediatr
; 159(6): 1004-11, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21784456
20.
Non-invasive measurements of atherosclerosis in adult cystinosis patients.
J Inherit Metab Dis
; 34(3): 811-8, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21305353