نتایج جستجو برای: enzyme replacement therapy
تعداد نتایج: 963273 فیلتر نتایج به سال:
Intravenous enzyme replacement therapy (Alglucerase; Ceredase; Genzyme Corp, Boston, MA) is an effective and safe treatment for patients with type 1 Gaucher disease. In an attempt to reduce its high cost, a "low-dose high-frequency" protocol (30 U/kg/mo, 3 times a week) was introduced and found to be as effective as the original high-dose protocol (60 U/kg every 2 weeks). Because receiving freq...
Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replac...
We demonstrated previously that short term administration of recombinant beta-glucuronidase to newborn mice with mucopolysaccharidosis type VII reduced lysosomal storage in many tissues. Lysosomal storage accumulated gradually after cessation of enzyme replacement therapy. Mice alive at 1 yr of age had decreased bone deformities and less lysosomal storage in cortical neurons. Here we compare th...
Hypothyroidism's neurological manifestations are uncommon as first symptoms, and they usually appear later in the disease's course.Muscle hypertrophy is a very occurrence hypothyroid people 1. Hoffmann's syndrome kind of hypothyroidism thatmanifests muscle stiffness pseudohypertrophy adults. In most cases myopathy, laboratory tests reveal elevatedlevels enzyme. The electro physiological investi...
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