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Rare Diseases

Latest News & Journal Articles View All

Gilead Asks FDA to Revoke Orphan Drug Status for Potential Coronavirus Drug

Reuters Health Information March 26, 2020
Adjuvant Chemo Halves Recurrence Risk in Rare Urothelial Cancer

Medscape Medical News March 11, 2020
Alert

Osilodrostat Gets FDA Go-Ahead for Cushing's Disease in Adults

FDA Approvals March 9, 2020
Roche Pushes to Kick-Start Lung Therapy Esbriet After Big Writedown

Reuters Health Information March 5, 2020
Tumor Profiling Yields Insights Into Poor Osteosarcoma Response to Immunotherapy

Reuters Health Information March 3, 2020
Looks Like Liver Cancer, but Large Cysts Contain Tapeworm Larvae

Medscape Medical News February 26, 2020
Netflix's 'Stranger Things' Raised Awareness About Rare Disorder

Reuters Health Information February 25, 2020
Long Delays in Amyloidosis Dx, Even With Established Cardiac Care

Medscape Medical News February 20, 2020

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Perspective View All

Maybe Memorizing the Krebs Cycle Was Worthwhile After All

Expert Interview February 6, 2020

Mitochondrial disorders are often difficult to diagnose and treat due to their multisystem nature. As scientists better understand mitochondrial function, effective treatments are beginning to emerge.
Confessions of a 'High-Yield' Doctor

Commentary November 20, 2019
The Week That Wasn't: New Virus, Child Dementia Treatment, Chemo Bubbles

Article November 15, 2019
5 Things to Know About CIDP

Article September 20, 2019

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Case Challenges View All

A 25-Year-Old Woman With a Droopy Eyelid and Double Vision

Case Challenge March 20, 2020

A 25-year-old woman with a throbbing headache developed droopiness of the left eyelid and double vision, which is gradually worsening. Can you make the diagnosis?
A 14-Year-Old Boy With Unexplained, Recurring Fever

Case Challenge June 17, 2019
A 56-Year-Old Woman With Paresthesia and Choking

Case Challenge December 26, 2018
A Visual Field Defect in a Patient With History of Seizures

Case Challenge October 9, 2018

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Medscape Editorial Collaborations

Conditions in Focus

Advisory Board

Stephanie L. Austin, MS, MA

Priya S. Kishnani, MD

Marshall L. Summar, MD

Editor

Amy Nadel

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