Search details
1.
Characterization of patients with aHUS and associated triggers or clinical conditions: A Global aHUS Registry analysis.
Nephrology (Carlton)
; 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38604995
2.
Estimating Total Energy Expenditure to Determine Energy Requirements in Free-Living Children With Stage 3 Chronic Kidney Disease: Can a Structured Approach Help Improve Clinical Care?
J Ren Nutr
; 34(1): 11-18, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37473976
3.
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.
Clin Genet
; 103(2): 214-218, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36148635
4.
Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial.
Eur J Pediatr
; 178(7): 1013-1021, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-31053954
5.
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Hum Mutat
; 39(2): 281-291, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29193635
6.
Thrombotic microangiopathy following haematopoietic stem cell transplant.
Pediatr Nephrol
; 33(9): 1489-1500, 2018 09.
Article
in English
| MEDLINE | ID: mdl-28993886
7.
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
J Med Genet
; 54(4): 269-277, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27811305
8.
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland.
Kidney Int
; 92(5): 1261-1271, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28750931
9.
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Kidney Int
; 91(4): 937-947, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28117080
10.
Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease.
Pediatr Nephrol
; 32(5): 893-896, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28194574
11.
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Am J Hum Genet
; 92(4): 632-6, 2013 Apr 04.
Article
in English
| MEDLINE | ID: mdl-23561849
12.
Positive trends in paediatric renal biopsy service provision in the UK: a national survey and re-audit of paediatric renal biopsy practice.
Pediatr Nephrol
; 31(4): 613-21, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26525201
13.
Basal metabolic rate in children with chronic kidney disease and healthy control children.
Pediatr Nephrol
; 30(11): 1995-2001, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25980467
14.
Eculizumab in atypical haemolytic uraemic syndrome with severe cardiac and neurological involvement.
Pediatr Nephrol
; 29(6): 1103-6, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24317637
15.
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.
Genet Res (Camb)
; 95(6): 165-73, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24472419
16.
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
Pediatr Nephrol
; 28(11): 2217-20, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23624871
17.
Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.
Pediatr Nephrol
; 28(8): 1315-8, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23624872
18.
Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype.
Clin Kidney J
; 16(1): 192-194, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36726441
19.
A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.
Genes (Basel)
; 14(8)2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37628633
20.
Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptan.
J Pediatr Endocrinol Metab
; 36(9): 895-899, 2023 Sep 26.
Article
in English
| MEDLINE | ID: mdl-37327191