Gill Rumsby
60 Whitfield Street, W1T 4EU
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 35 publications
Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway.
Journal: World journal of urology
Published: November 04, 2025
Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.
Journal: The Journal of biological chemistry
Published: April 14, 2025
A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.
Journal: Journal of inherited metabolic disease
Published: April 13, 2025
SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway.
Journal: World journal of urology
Published: February 14, 2025
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Journal: Clinical kidney journal
Published: September 23, 2024
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Journal: Nature reviews. Nephrology
Published: November 23, 2022
Genetic assessment in primary hyperoxaluria: why it matters.
Journal: Pediatric nephrology (Berlin, Germany)
Published: March 29, 2022
End Points for Clinical Trials in Primary Hyperoxaluria.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: March 14, 2020
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
Journal: Hormone research in paediatrics
Published: October 04, 2019
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
Journal: Journal of the Endocrine Society
Published: August 15, 2019
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Journal: Kidney international
Published: December 10, 2018
Last Updated: 09/26/2026