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Rare Diseases

Latest News & Journal Articles View All

New Insights in the Management of Hepatocellular Adenoma

Liver International July 24, 2020
ASRS 2020

Ophthalmologists Called to Catch Cancers Earlier

Medscape Medical News July 17, 2020
FDA Expands Dysport Use for Cerebral Palsy-Related Spasticity

FDA Approvals July 14, 2020
High HGF Expression Predicts Survival in Male Breast Cancer

Breast Cancer Research June 26, 2020
Combo Carboplatin/Paclitaxel New Standard of Care for Anal Cancer

Medscape Medical News June 25, 2020
EHA 2020

Drug Shows 'Striking' Efficacy in Hereditary Bleeding Disorder

Medscape Medical News June 18, 2020
EAACI 2020

Avapritinib Promising for Systemic Mastocytosis Treatment

Medscape Medical News June 16, 2020
Tau Inhibitor Promising in Rapidly Progressing Dementia Type

Medscape Medical News May 27, 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

My Strangest Case: An Infant With Lumps in Her Belly

Case Challenge June 10, 2020

The parents of a 3.5-month-old girl noticed lumps in her belly while bathing her. This set off an investigation into various rare diseases that could be responsible, with a surprising resolution.
A 25-Year-Old Woman With a Droopy Eyelid and Double Vision

Case Challenge March 20, 2020
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

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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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