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Journals and Conferences
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that almost exclusively involves motor neurons although autonomic dysfunction has also been reported. We present an… (More)
Background: Gaucher disease is the most prevalent metabolic storage disorder. It was first described in 1882, in a 32 year old lady with chronic progressive hepatosplenomegaly by Dr. Ernest Philippe… (More)
background. To describe the pattern of patients admit- ted due to rare diseases corresponding to congenital anomalies in a regional hospital.