نتایج جستجو برای: i mucopolysaccharidosis i

تعداد نتایج: 1040570  

Journal: :OBM genetics 2023

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...

2010
Tsing-San Hsu

Correspondence should be addressed to Tsing-San Hsu, [email protected] Received 8 September 2010; Accepted 18 October 2010 Academic Editor: Julio Rossi Copyright q 2010 Tsing-San Hsu. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly c...

2014
Mohammad ABDI Mohammad Said HAKHAMANESHI Mohammad Reza ALAEI Namam-Ali AZADI Rahim VAKILI Daniel ZAMANFAR Mohammad TAGHIKHANI Shohreh KHATAMI

OBJECTIVE The first line-screening test for mucopolysaccharidosis is based on measurement of urinary glycosaminoglycans. The most reliable test for measurement of urine glycosaminoglycans is the 1,9-dimethyleneblue colorimetric assay. Biological markers are affected by ethnical factors, for this reason, the World Health Organization recommends that the diagnostic test characteristics should be ...

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