mucopolysaccharidoses are a group of rare mostly autosomal recessive metabolic and genetic disorders. because of the high rate of consanguinity, they are not uncommon in our population. clinical diagnosis is not difficult for experienced physicians, but it is not enough for treatment and prevention measures in the future pregnancies. so, it is necessary to detect the type of mps by measurement ...

how to cite this article: karimzadeh p. fabery disease (a kind of lysosomal storage disease). iran j child neurol autumn 2012; 6:4(suppl. 1):6. pls see pdf.

Patients with chronic pancreatic insufficiency develop improper digestion due to the lack of digestive pancreatic enzymes. Such patients might complain of diarrhea and multi-nutrient deficiencies. Children with cystic fibrosis are at an increased risk of developing pancreatic insufficiency, while adults can develop chronic pancreatitis due to gallbladder disease or alcohol consumption. Regardle...

BACKGROUND Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrate reduction therapy are generally used as monotherapies in Gaucher disease. However, one randomized study and several case reports have described combination therapy over short ...