how to cite this article: imanzadeh f. gastrointestinal symptoms in lysosmal disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):17-18. pls see pdf.   references: 1. semenza  gl,  pyeritz  re.  respiratory complications of mucopolysaccharide storage disorders. medicine (baltimore) 1988; 67:209. 2.   wraith   je,   scarpa   m,   beck   m,   et   al. mucopolysaccharidosis type ii (hunter syn...

BACKGROUND Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a disease-modifying treatment is available. The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis...

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the hydrolase α-L-iduronidase. MPS characterized broad range disease manifestations. This includes devastating neurocognitive and bone manifestations short life expectancy in severely affected patients. Neurocognitive are typically limited more attenuated I, but patients may still suffer from severe som...

OBJECTIVE Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study was to describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients. PATIENTS AND METHODS The natural course of mu...