Sharon D. Whatley
Cardiff, WLS CF144XW, United Kingdom
Last Updated: 09/26/2026
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Found 13 publications
Primary adrenal insufficiency associated with homozygous hereditary coproporphyria.
Journal: European journal of endocrinology
Published: June 03, 2025
Practical recommendations for biochemical and genetic diagnosis of the porphyrias.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: January 08, 2024
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
Journal: European journal of medical genetics
Published: February 27, 2020
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 28, 2019
Best practice guidelines on first-line laboratory testing for porphyria.
Journal: Annals of clinical biochemistry
Published: August 25, 2016
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.
Journal: The British journal of dermatology
Published: April 08, 2016
X-linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia.
Journal: British journal of haematology
Published: July 22, 2015
Role of genetic testing in the management of patients with inherited porphyria and their families.
Journal: Annals of clinical biochemistry
Published: April 23, 2013
X-linked dominant protoporphyria: a new porphyria.
Journal: Clinical and experimental dermatology
Published: March 10, 2013
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
Journal: The British journal of dermatology
Published: July 24, 2012
Last Updated: 09/26/2026