Robert J. Desnick
Medical Genetics | Pediatrics
1 Gustave L Levy Pl
Box 1498
New York, NY 10029
Box 1498
New York, NY 10029
Last Updated: 09/26/2026
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Found 139 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
Rapidly progressive, infantile lysosomal acid lipase deficiency: Prevalence in the Mizrahi Jewish population.
Journal: Molecular genetics and metabolism
Published: July 29, 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
Noncanonical role of ALAS1 as a heme-independent inhibitor of small RNA-mediated silencing.
Journal: Science (New York, N.Y.)
Published: December 19, 2024
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.
Journal: Human genomics
Published: November 01, 2024
Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria.
Journal: Hepatology communications
Published: August 29, 2024
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: August 28, 2024
Reduction in kidney function decline and risk of severe clinical events in agalsidase beta-treated Fabry disease patients: a matched analysis from the Fabry Registry.
Journal: Clinical kidney journal
Published: March 06, 2024
Congenital erythropoietic porphyria.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: February 10, 2024
Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria.
Journal: Biomolecules
Published: November 20, 2023
Anderson-Fabry disease management: role of the cardiologist.
Journal: European heart journal
Published: September 03, 2023
Last Updated: 09/26/2026