Search details
1.
MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.
Am J Physiol Renal Physiol
; 2024 Mar 28.
Article
in English
| MEDLINE | ID: mdl-38545650
2.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Mov Disord
; 2024 Apr 30.
Article
in English
| MEDLINE | ID: mdl-38685873
3.
Estimated glomerular filtration rate: applicability of creatinine-based equations in African children.
Pediatr Nephrol
; 2024 Mar 28.
Article
in English
| MEDLINE | ID: mdl-38546762
4.
Proposal for individualized dosing of eculizumab in atypical haemolytic uraemic syndrome: patient friendly and cost-effective.
Nephrol Dial Transplant
; 38(2): 362-371, 2023 02 13.
Article
in English
| MEDLINE | ID: mdl-35238929
5.
The Role of Properdin in C5 Convertase Activity and C5b-9 Formation in the Complement Alternative Pathway.
J Immunol
; 207(10): 2465-2472, 2021 11 15.
Article
in English
| MEDLINE | ID: mdl-34635587
6.
The potential of RNA-based therapy for kidney diseases.
Pediatr Nephrol
; 38(2): 327-344, 2023 02.
Article
in English
| MEDLINE | ID: mdl-35507149
7.
HIV-associated nephropathy in children: challenges in a resource-limited setting.
Pediatr Nephrol
; 38(8): 2509-2521, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36472655
8.
Glomerular hyperfiltration: part 2-clinical significance in children.
Pediatr Nephrol
; 38(8): 2529-2547, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36472656
9.
The Zebrafish Embryo as a Model Organism for Testing mRNA-Based Therapeutics.
Int J Mol Sci
; 24(13)2023 Jul 07.
Article
in English
| MEDLINE | ID: mdl-37446400
10.
The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.
Int J Mol Sci
; 24(2)2023 Jan 09.
Article
in English
| MEDLINE | ID: mdl-36674769
11.
De novo SIX2 activation in human kidneys treated with neonatal kidney stem/progenitor cells.
Am J Transplant
; 22(12): 2791-2803, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35913414
12.
Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia.
Br J Haematol
; 196(1): 204-214, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34545573
13.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35279850
14.
Sickle cell nephropathy: insights into the pediatric population.
Pediatr Nephrol
; 37(6): 1231-1243, 2022 06.
Article
in English
| MEDLINE | ID: mdl-34050806
15.
Establishment and characterization of a novel conditionally immortalized human parietal epithelial cell line.
Exp Cell Res
; 405(2): 112712, 2021 08 15.
Article
in English
| MEDLINE | ID: mdl-34181939
16.
Long-term follow-up including extensive complement analysis of a pediatric C3 glomerulopathy cohort.
Pediatr Nephrol
; 37(3): 601-612, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34476601
17.
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
18.
Molecular and functional characterization of urine-derived podocytes from patients with Alport syndrome.
J Pathol
; 252(1): 88-100, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32652570
19.
Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis.
J Am Soc Nephrol
; 31(5): 1092-1106, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32273301
20.
Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis.
Int J Mol Sci
; 22(17)2021 Aug 30.
Article
in English
| MEDLINE | ID: mdl-34502306