Publications by authors named "Piers Fulton"

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Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Saira Yousaf, Ryizan Nizar, George Alias, David Taylor, Piers Fulton

JCEM Case Rep· November 2025

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The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature.
Chamila Balagamage, Rebecca Igbokwe, Trevor Cole, Elizabeth S Baranowski, Liam McCarthy, Piers Fulton

J Pediatr Endocrinol Metab· September 2025

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The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
Min Sun, Jonathan W Mueller, Lorna C Gilligan, Angela E Taylor, Fozia Shaheen, Piers Fulton

Eur J Endocrinol· October 2021

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Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams

Hum Mutat· July 2017

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Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.
Ritika R Kapoor, Sarah E Flanagan, Piers Fulton, Anupam Chakrapani, Bernadette Chadefaux

Eur J Endocrinol· November 2009

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