Last Updated: 09/26/2026
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Found 104 publications
Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry.
Journal: Neurology
Published: May 05, 2026
Lipid profile in pediatric and adult patients with lysosomal acid lipase deficiency treated with sebelipase alfa: longitudinal evidence from the International LAL-D Registry.
Journal: Atherosclerosis
Published: March 27, 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
Complementary and alternative medicines and cannabis use among individuals with acute intermittent porphyria.
Journal: Molecular genetics and metabolism
Published: February 02, 2026
Guidelines for the management of acute porphyria: recommendations from the International Porphyria Network.
Journal: The Lancet. Haematology
Published: November 28, 2025
Complementary and alternative medicines and cannabis use among individuals with erythropoietic protoporphyria.
Journal: Molecular genetics and metabolism
Published: September 08, 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
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease.
Journal: Molecular genetics and metabolism
Published: June 12, 2025
The Burden of Erythropoietic Protoporphyria (EPP): Results From the EPP Life Impact and Genetic Health Trajectory (LIGHT) Study.
Journal: The Journal of dermatology
Published: March 18, 2025
Self-Reported Liver Disease and the Burden of Erythropoietic Protoporphyria.
Journal: JIMD reports
Published: December 23, 2024
Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: November 12, 2024
Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria.
Journal: Hepatology communications
Published: August 29, 2024
Last Updated: 09/26/2026