Background Hemophilia is a rare congenital bleeding disorder that results from complete or
partial deficiency of blood coagulation factor (F) VIII (hemophilia A) or FIX (hemophilia B) …

Background Despite an increase in our understandings of pathogenesis of thrombotic
thrombocytopenic purpura (TTP), the approaches for initial diagnosis and management of …

The nutrition management guideline for very-long chain acyl-CoA dehydrogenase
deficiency (VLCAD) is the 4 th in a series of web-based guidelines focusing on the diet …

Objectives: Identify the epidemiology of sickle cell disease. Describe the different types of
sickle cell crises. Review the treatment and management options available for sickle cell …

Growth promoting variants in PIK3CA cause a spectrum of developmental disorders,
depending on the developmental timing of the mutation and tissues involved. These …

Abstract Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access
specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical …

We aimed to identify the prevalence of affective and anxiety disorders across different rare
disease and identify correlates of psychopathology. We performed a systematic review and …

Background Rare diseases are a priority objective for public health systems. Given its
complexity, late and misdiagnoses occur very often which causes mental and physical …

Background Clinical practice recommendations for the management of acute appendicitis in
pregnancy are lacking. Objective To develop an evidence-informed, trustworthy guideline on …

Fontan-type surgery is the final step in the sequential palliative surgical treatment of infants
born with a univentricular heart. The resulting long-term haemodynamic changes promote …