Rare Diseases
Article
NORD Report Shows Majority of States Fall Short on Reducing Burden of Living With a Rare Disease
Article
Nominate a Patient or Colleague for a NORD Rare Impact Award
Conference Coverage
Lysosomal acid lipase replacement corrects rare genetic cause of liver failure, atherosclerosis
BOSTON
Conference Coverage
First visit for tuberous sclerosis complex comes months before diagnosis
HOUSTON – Many patients who eventually receive a diagnosis of tuberous sclerosis complex present with related complaints for months, or even years...
From the Journals
Two-test sequence identifies sporadic Creutzfeldt-Jakob with 100% sensitivity, specificity
The sequential use of two diagnostic tests – one assessing cerebrospinal fluid and the other assessing nasal swabs – identifies sporadic...
Article
Hereditary Neuropathy Foundation Announces Newest Center of Excellence
Article
PSC Partners Seeking a Cure Launches Campaign to Distinguish Between PSC and PBC
Article
New Guidelines Published for Diagnosis and Management of Cystathionine Beta-Synthase Deficiency
Conference Coverage
Prenatal exposure to hydroxychloroquine cuts risk of neonatal cutaneous lupus
WASHINGTON - Prenatal hydroxychloroquine reduces the risk of cutaneous neonatal lupus by 60% among the infants of women with a systemic autoimmune...