Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in ...
Among other gluconeogenesis disorders, fructose-1, 6 diphosphatase deficiency can be discussed in some cases. However, in this disease, the tolerance to fasting is much longer (8 to 10 hours) than it is in GSDI, and the liver is not as enlarged. Other types of GSD may be evoked. GSDI...
Among other gluconeogenesis disorders, fructose-1, 6 diphosphatase deficiency can be discussed in some cases. However, in this disease, the tolerance to fasting is much longer (8 to 10 hours) than it is in GSDI, and the liver is not as enlarged. Other types of GSD may be evoked. GSDI...
glucose-6-phosphatase deficiency 词条 glucose-6-phosphatase deficiency 专业释义 <医学>葡萄糖-6-磷酸酶缺乏症;糖原贮积病Ⅰ型;6-磷酸葡萄糖酶缺乏症 词条提问
4*† Abstract Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of ...
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types I... R Froissart,M Piraud,AM Boudjemline,... - 《Orphanet Journal of Rare Diseases》 被引量: 155发表: 2011年 Hepatorenal glycogenosis ...
专业医学词典 葡萄糖磷酸酶缺乏 与"glucosephosphatase deficiency"相近的词条 ...
Glucose 6-phosphatase deficiency: mechanisms of genetic control and biochemistry Mechanisms are discussed by which several radiation-induced lethal mutations in the mouse control enzyme activity and morphogenesis. These mutations behave... S Gluecksohn-Waelsch,CF Cori - 《Biochemical Genetics》 被引量:...
Study of Liver Metabolism in Glucose-6- Phosphatase Deficiency (Glycogen Storage Disease Type 1A) by P-31 Magnetic Resonance Spectroscopy R. D. OBERHAENSLI, B. RAJAGOPALAN, D. J. TAYLOR, G. K. RADDA, J. E. COLLINS, AND J. V. LEONARD MRC Facility for Clinical Magnetic Resonance, John...
He had intermittent hypernatremia with low urinary osmolality.The suggested defect is a partial deficiency of the transport component for glucose-6-phosphatase located on the microsomal membrane. Complete deficiency results in the clinical picture of von Gierke's disease. The defect in this patient ...