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Rare Diseases

Latest News & Journal Articles View All

COVID-19 Vaccine and Guillain-barre Syndrome

Brain April 12, 2021
Tafamidis Should Be Accessible for All Patients With ATTR-CM

JACC: Heart Failure March 26, 2021
Triple Threat: Three Common Symptoms Add Up to One Rare Condition

Medscape Medical News March 24, 2021
Extrapulmonary NTM Infections in Hospitalized Patients

Emerging Infectious Diseases March 23, 2021
HDL Mimetic Restores Kidney Function, Vision in Rare Disorder

Medscape Medical News March 4, 2021
CDC Adopts Rules for DRC, Guinea Travelers Over Ebola Concerns

Reuters Health Information March 3, 2021
Alert

First Oral SMA Treatment Gets EMA Panel Thumbs Up

International Approvals March 1, 2021
Alert

FDA OKs First 'Targeted Treatment' for Rare DMD Mutation

FDA Approvals February 25, 2021

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Perspective View All

American College of Cardiology & Medscape

Navigating Prior Authorization and Costs for HFrEF Drugs

Commentary May 11, 2021

Online tools and decision aids can help clinicians and patients work through the barriers that have slowed the use of new drugs such as sacubitril-valsartan.
Why Biliary Atresia Demands Our Respect

Commentary August 19, 2020
Maybe Memorizing the Krebs Cycle Was Worthwhile After All

Expert Interview February 6, 2020
Confessions of a 'High-Yield' Doctor

Commentary November 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