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Orphanet Journal of Rare Diseases|August 26, 2022
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION studyBruce Wang, Paolo Ventura, Kei-Ichiro Takase, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyriaBrenden Chen, Constanza Solis-Villa, Angelika L Erwin, et al.Molecular Genetics and Metabolism|November 8, 2025
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher DiseaseChloe Cheung, Luca Fierro, Catherine McDonough, et al.Archives of Dermatology|May 19, 2010
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutationJulie L Cantatore-Francis, Jessica Cohen-Pfeffer, Manisha Balwani, et al.Molecular Genetics and Metabolism|October 23, 2016
Acute Intermittent Porphyria in children: A case report and review of the literatureManisha Balwani, Preeti Singh, Anju Seth, et al.Molecular Genetics and Metabolism|September 22, 2015
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United StatesManisha Balwani, Thomas Andrew Burrow, Joel Charrow, et al.Molecular Genetics and Metabolism Reports|November 22, 2017
Parkinson's disease prevalence in Fabry disease: A survey studyAdina H Wise, Amy Yang, Hetanshi Naik, et al.Neurology|May 5, 2026
Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher RegistryRoy N Alcalay, Pramod Mistry, Alessio Di Fonzo, et al.Ultrasound Quarterly|September 2, 2022
Pitfalls and Practical Challenges in Imaging of the Pediatric ScrotumHumaira Chaudhry, Madheea Siddiqi, William L Simpson, et al.Journal of Radiology Case Reports|December 3, 2015
Mycobacterium kansasii causing chronic monoarticular synovitis in a patient with HIV/AIDSLeo Menashe, Leslie Dubin Kerr, George HermannPageof 13