Enzyme replacement therapy in a patient with hyperargininemia.
نویسندگان
چکیده
منابع مشابه
Enzyme replacement therapy in a patient with hyperargininemia.
In a patient with hyperargininemia, enzyme replacement therapy such as whole blood exchange transfusion or erythrocyte transfusion was performed, and its effect was confirmed in vitro as well as in vivo. The patient has been treated with the restriction of protein intake, oral administration of an essential amino acid mixture, and sodium benzoate or phenylacetic acid. With these treatments, his...
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Patients with chronic pancreatic insufficiency develop improper digestion due to the lack of digestive pancreatic enzymes. Such patients might complain of diarrhea and multi-nutrient deficiencies. Children with cystic fibrosis are at an increased risk of developing pancreatic insufficiency, while adults can develop chronic pancreatitis due to gallbladder disease or alcohol consumption. Regardle...
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BACKGROUND Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT). METHODS We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT. RESULTS Urinary glucosaminoglycan excretion decreased by 70% after one month of ...
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Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1987
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.151.301