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1. ホスホフルクトキナーゼ欠損症（糖原病VII型、垂井病）phosphofructokinase deficiency glycogen storage disease vii tarui disease [show details]
…PFK is a glycolytic enzyme that catalyzes the conversion of fructose 6-phosphate to fructose 1,6-bisphosphate When PFK is deficient, the resulting block in glycolysis leads to a secondary glycogenosis. PFK …
2. 原発性高シュウ酸尿症primary hyperoxaluria [show details]
…of glyoxylate and hydroxypyruvate, which are converted by lactate dehydrogenase to oxalate and L-glycerate These metabolites are excreted in excessive amounts in the urine, which in the case of oxalate …
3. 頚部顔面の放線菌症cervicofacial actinomycosis [show details]
…including HIV/AIDS ; Malnutrition; Local tissue damage caused by neoplastic disease or irradiation; Bisphosphate related osteonecrosis of the jaws ; The diagnosis of actinomycosis in children should arouse …
4. 転移性乳癌における予後および予測因子prognostic and predictive factors in metastatic breast cancer [show details]
…The investigators utilized plasma samples from baseline with detectable phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) mutation in ctDNA with matched plasma samples after …
5. グリコーゲン代謝のその他の障害：GLUT2欠損症およびアルドラーゼA欠損症other disorders of glycogen metabolism glut2 deficiency and aldolase a deficiency [show details]
…detection of a homozygous pathogenic mutation or two heterozygous mutations in the aldolase, fructose-bisphosphate A (ALDOA) gene by sequence analysis can also confirm the diagnosis. Treatment of aldolase A deficiency…