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T1  - Unique Exercise Lactate Profile in Muscle phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease 
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UR  - http://hdl.handle.net/10138/164627 
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A1  - Piirilä, Päivi; Similä, Minna E.; Palmio, Johanna; Wuorimaa, Tomi; Ylikallio, Emil; Sandell, Satu; Haapalahti , Petri; Uotila, Lasse; Tyynismaa, Henna; Udd, Bjarne; Auranen, Mari 
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Y1  - 2016 
LA  - eng 
AB  - Introduction: Glycogen storage disease V (GSDV, McArdle disease) and GSDVII (Tarui disease) are the most common of the rare disorders of glycogen metabolism. Both are associated with low lactate levels on exercise. Our aim was to find out whether lactate response associated with exercise testing could distinguish between these disorders. Methods: Two siblings with Tarui disease, two patients with McArdle disease and eight healthy controls were tested on spiroergometric exercise tests with follow... 
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KW  - ammonia; McArdle disease; lactate; muscle phosphofructokinase; pentose phosphate pathway; spiroergometry; Tarui disease; muscle metabolism; WORK CAPACITY; GAS-EXCHANGE; VII; GLYCOGENOSIS; POPULATION; METABOLISM; RESPONSES; WEAKNESS; AMMONIA; 3124 Neurology and psychiatry 
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