by CheckRare Staff | Oct 31, 2024
Type 1 galactosemia is a rare genetic disease that can be life-threatening in newborns and can lead to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.[1] Type 1 galactosemia is caused by...
by CheckRare Staff | Oct 28, 2024
« Prev1 / 1Next »Restless Legs Syndrome Treatment and Guidelines UpdateRestless Legs Syndrome Overview (Chapter 1)Management of Restless Legs Syndrome (Chapter 2)Updated AASM Guidelines for RLS (Chapter 3)Gabapentin Enacarbil: Clinical Practice Guideline...
by CheckRare Staff | Oct 21, 2024
Dr. Sonal Kumar, an Assistant Professor of Medicine, and Director of Clinical Hepatology at Weill Cornell Medical College in New York, NY discusses the integral role of the patient voice in navigating treatment decisions and determining an individualized care plan for...
by CheckRare Staff | Oct 16, 2024
WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence, predominantly caused by pathogenic variants in the CXCR4 chemokine receptor gene.[1] The CXCR4 receptor is involved...
by CheckRare Staff | Oct 7, 2024
Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome. It is a progressive,...
