An article about this disease beginning with an explanation as to what it is, followed by how it is...
Factsheet on these disorders, their cause, clinical features and treatment.
Encyclopedia article on this rare inherited genetic disorder.
An in depth look article on this disorder written by Karl S Roth, MD. From a description to treatme...
The BBC reports on a father who researched potential cures with medical specialists, and they conse...
Factsheet on this autosomal recessive condition, its epidemiology, presentation, differential diagn...