Last Updated: 09/26/2026
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Found 122 publications
Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria.
Journal: Molecular genetics and metabolism reports
Published: May 07, 2026
Hepatoerythropoietic porphyria in a 2-year-old child: Clinical features and effects of treatment.
Journal: Molecular genetics and metabolism
Published: April 17, 2026
Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX).
Journal: Molecular genetics and metabolism
Published: February 17, 2026
Porphyria Diagnostics Part 3: Biochemical Protocols for the Diagnosis of Porphyrias.
Journal: Current protocols
Published: January 09, 2026
Prospective COPD Case Finding in a Lung Cancer Screening Program: A Pilot Study.
Journal: Chronic obstructive pulmonary diseases (Miami, Fla.)
Published: September 02, 2025
Bitopertin shows efficacy in patients with erythropoietic protoporphyria: Results from the randomized, double-blind, placebo-controlled AURORA trial.
Journal: Journal of the American Academy of Dermatology
Published: June 17, 2025
Haematological parameters in erythropoietic protoporphyria: A multi-national study.
Journal: British journal of haematology
Published: March 19, 2025
OATP1B1/1B3 deficiency exacerbates hyperbilirubinemia in erythropoietic protoporphyria.
Journal: Drug metabolism and disposition: the biological fate of chemicals
Published: March 13, 2025
Correction: Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
Journal: European journal of human genetics : EJHG
Published: March 11, 2025
Porphyria Diagnostics Part 2: Essential Biochemical Testing for Diagnosis of the Porphyrias.
Journal: Current protocols
Published: February 10, 2025
Screening for acute hepatic porphyria in postural tachycardia syndrome.
Journal: Clinical autonomic research : official journal of the Clinical Autonomic Research Society
Published: December 06, 2024
Last Updated: 09/26/2026