نتایج جستجو برای: iduronidase enzyme deficiency
تعداد نتایج: 368943 فیلتر نتایج به سال:
Background: Myeloperoxidase (MPO), an iron-containing protein, is found in the azurophilic granules of neutrophils (PMNs), and catalyzes the conversion of hydrogen peroxide and chloride ions (Cl) into hypochlorous acid, which plays an important role in oxygen-dependent bacterial killing. The enzyme was first isolated in 1941, and deficiency of MPO was first described in 1954. Fewer than 5% of p...
OBJECTIVE To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. METHODS Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with alpha-l-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and ...
Background: The deficiency of enzyme glucose-6-phosphate dehydrogenase (G6PD) is among the most common genetic diseases in human. The deficiency of G6PD enzyme is one of the most common encountered enzymes, affecting about 400 million people and causing a wide range of undesirable clinical complications worldwide. The performed studies have reported a variety of statements about the relationshi...
Allogeneic bone marrow transplantation is the most effective treatment for Hurler syndrome but, since this therapy is not available to all patients, we have considered an alternative approach based on transfer and expression of the normal gene in autologous bone marrow. A retroviral vector carrying the full-length cDNA for alpha-L-iduronidase has been constructed and used to transduce bone marr...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzyme deficiency in the world. The epidemiological, biochemical and molecular studies on G6PD enzyme deficiency performed over the past 50 years are summarized herein, with special emphasis on the findings of studies related to the enzyme deficiency in Turkey.
Background: The purpose of this study was to determine the prevalence of G6PD deficiency in infants with jaundice in Khalij-Fars Hospital of Bandar Abbas in 2015. Methods: In this descriptive-analytic cross-sectional study, which is done in 2015 in Khalij-Fars Hospital of Bandar-Abbas, 226 infants with jaundice were entered. Admission age, hospitalization time, gender, age of birth, birth weig...
glucose-6-phosphate dehydrogenase (g6pd) deficiency is a common enzyme deficiency in the world. it's prevalence iniranis about 12% in male & about 1% in female. the present study did examine the relation between the development of preeclampsia and g6pd deficiency. it was investigated whether or not the risk of preeclampsia in g6pd deficient women is higher than that in normal pregnant women. a ...
BACKGROUND Mucopolysaccharidoses are heritable, metabolic diseases caused by deficiency in an activity of one of specific lysosomal enzymes involved in degradation of mucoplysaccharides (glycosaminoglycans). Among many medical problems of patients with mucopolysaccharidoses, there are frequent episodes of diarrhea of unknown etiology. CASE PRESENTATION A girl, diagnosed enzymatically for muco...
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