نتایج جستجو برای: mucopolysaccharidosis type i

تعداد نتایج: 2218703  

2012
Ghazi Omar Tadmouri

Genetic and inherited disorders have accompanied humanity since its earliest existence. Many prehistoric and historic sites have revealed archeological remains with pathologies suggestive of inherited disorders. Paleopathology studies the identification of pathological conditions in ancient skeletal remains from many world sites revealed the presence of various hereditary or congenital conditio...

Journal: :Journal of medical genetics 1984
G Hug S Soukup G Chuck M Ryan

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterised by the deficient activity of iduronidase and by the presence of MPS vacuoles in many tissues of affected patients. We studied whether these characteristics could be used for the antenatal diagnosis of the disease. We obtained amniotic fluid cells from two pregnancies at risk for MPS I, one pregnancy at risk for G...

Journal: :Acta biochimica Polonica 2012
Izabela Chmielarz Magdalena Gabig-Cimińska Marcelina Malinowska Zyta Banecka-Majkutewicz Alicja Węgrzyn Joanna Jakobkiewicz-Banecka

Cytotoxicity of laronidase (Aldurazyme(®)), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was tested. The enzyme did not cause any cytotoxic effects, and the siRNAs did not inhibit growth of most investigated cell lines. However, some cytotoxic...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید