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glycogen storage disease/phosphatase
پیوند در کلیپ بورد ذخیره می شود
صفحه 1 از جانب 437 نتایج
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
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We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial
Glycogenosis type I (glucose 6-phosphatase deficiency): I. Ultrastructural morphometric analysis of juvenile liver cells.
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The essential biochemical characteristic of von Gierke's disease is an inborn glucose-6-phosphatase deficiency and glycogen storage in the liver and kidney. This expresses itself morphometrically as an increased volume of glycogen per unit volume of the hepatocellular cytoplasm. Since
Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.
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Glycogen storage disease type 1a (GSD-1a) is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. A G6Pase knockout mouse which mimics the pathophysiology of human GSD-1a patients was created to understand the pathogenesis of this disorder, to
Glucose-6-phosphatase activity in liver and blood platelets of two patients with glycogen storage disease type I.
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Glucose-6-phosphatase (G-6-Pase) activity in liver and blood platelets of two patients with glycogen storage disease (GSD) type I is described. Both patients had a reduced activity of G-6-Pase in liver. The km value for glucose 6-phosphate (G-6-P) of residual activity in liver of both patients was
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.
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A 4-year-old German girl was diagnosed as having glycogen storage disease type la and showed no other marked symptoms except hepatomegaly. The glucose-6-phosphatase activity in the liver was approximately 1.5% to 5.0% of normal values, and molecular analysis revealed compound heterozygosity for R83C
Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.
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Glycogen storage disease (GSD) type 1a (von Gierke disease) is caused by a deficiency in glucose-6-phosphatase, the key enzyme in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis. Despite its clinical importance, this membrane-bound enzyme has eluded molecular
[Glycogen storage disease type I with normal in vitro activity of glucose-6-phosphatase (author's transl)].
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A 4.5 months old girl was suspected to have Glycogenosis type I because of hepatomegalie and recurrent hypoglycemia. Liverbiopsy revealed a normal glycogen content and a normal in vitro activity of glucose-6-phosphatase. We then examined the carbohydrate metabolism and could demonstrate that in
Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors.
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Therapy in glycogen storage disease type Ia (GSD Ia), an inherited disorder of carbohydrate metabolism, relies on nutritional support that postpones but fails to prevent long-term complications of GSD Ia. In the canine model for GSD Ia, we evaluated the potential of intravenously delivered
Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings.
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The basic defect in glycogen storage disease (GSD) type 1b was investigated in two patients: one, (Y.S.), a severely affected infant and the other, (Y.M.), an adult with mild clinical symptoms. The enzymatic studies on liver needle biopsy specimens from the two patients indicated that
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
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Glycogen storage disease type Ia (GSD Ia; MIM 232200) is an autosomal recessive inherited metabolic disorder resulting from a deficiency of the microsomal glucose-6-phosphatase (G6Pase), the enzyme that catalyzes the terminal step in gluconeogenesis and glycogenolysis. Various mutations in the
Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
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Glucose-6-phosphatase (G6Pase) is the enzyme deficient in glycogen storage disease type 1a, an autosomal recessive disorder. We have previously identified six mutations in the G6Pase gene of glycogen storage disease type 1a patients and demonstrated that these mutations abolished or greatly reduced
A conformational model for the human liver microsomal glucose-6-phosphatase system: evidence from rapid kinetics and defects in glycogen storage disease type 1.
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Rapid kinetics of glucose-6-phosphate (G6P) uptake and hydrolysis as well as of orthophosphate uptake were investigated in microsomes prepared from normal and glycogen storage disease type 1a (GSD 1a) human livers using a fast sampling, rapid filtration apparatus and were compared to those of rat
Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
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Glycogen storage disease type 1a (GSD 1a), an autosomal recessive disease, is caused by the inactivity of glucose-6-phosphatase, the gene of which has been recently cloned. We report on the missense mutation C-->T at nucleotide 326 of the G6Pase gene, causing the change of the Arg codon at position
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
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Glycogen storage disease (GSD) type 1a is an autosomal recessive inborn error of metabolism caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Southern blot hybridization analysis using a panel of human-hamster hybrids showed that human G6Pase
Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.
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Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.
کاملترین پایگاه داده گیاهان دارویی با پشتیبانی علمی
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علامت یا بیماری را تایپ کنید و در مورد گیاهانی که ممکن است به شما کمک کنند ، بخوانید ، یک گیاه تایپ کنید و بیماری ها و علائمی را که در برابر آن استفاده می شود ، ببینید.
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