نتایج جستجو برای: enzyme replacement therapy

تعداد نتایج: 963273  

Journal: :Blood 1993
A Zimran C E Hollak A Abrahamov M H van Oers M Kelly E Beutler

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...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2009
W M But S H Lee Angel O K Chan Gene T C Lau

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...

Journal: :Molecular Therapy - Methods & Clinical Development 2020

Journal: :The Journal of clinical investigation 1997
M S Sands C Vogler A Torrey B Levy B Gwynn J Grubb W S Sly E H Birkenmeier

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...

Journal: :Journal of Pharmaceutical Negative Results 2022

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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