Last Updated: 09/26/2026
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Found 42 publications
Autonomic and small fiber neuropathy in patients with acute hepatic porphyrias.
Journal: Molecular genetics and metabolism
Published: April 13, 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
Distinct Myogenic Stages Recapitulate Transcriptomic Networks in COPD Cachexia.
Journal: bioRxiv : the preprint server for biology
Published: January 23, 2026
Effects of a Coach-Guided Online Yogic Breathing Program on Quality of Life in People With Amyotrophic Lateral Sclerosis: A Mixed-Methods Pilot RCT.
Journal: The American journal of hospice & palliative care
Published: December 05, 2025
The myokine FGF21 associates with enhanced survival in ALS and mitigates stress-induced cytotoxicity.
Journal: bioRxiv : the preprint server for biology
Published: September 24, 2024
Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria.
Journal: Hepatology communications
Published: August 29, 2024
Myositis/myasthenia gravis caused by immune checkpoint inhibition: A report of two cases and a brief review of the literature.
Journal: Medicine international
Published: August 21, 2024
Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria.
Journal: Hepatology (Baltimore, Md.)
Published: April 04, 2023
Editorial: Diagnosis of neuromuscular disorders in the era of personalized genomic medicine.
Journal: Frontiers in neurology
Published: March 16, 2023
Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.
Journal: Frontiers in neurology
Published: July 29, 2022
Pain in acute hepatic porphyrias: Updates on pathophysiology and management.
Journal: Frontiers in neurology
Published: July 26, 2022
Last Updated: 09/26/2026