{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T11:20:19Z","timestamp":1758280819516},"publisher-location":"New York, NY","reference-count":16,"publisher":"Springer US","isbn-type":[{"type":"print","value":"9781461577058"},{"type":"electronic","value":"9781461577034"}],"license":[{"start":{"date-parts":[[1991,1,1]],"date-time":"1991-01-01T00:00:00Z","timestamp":662688000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1991]]},"DOI":"10.1007\/978-1-4615-7703-4_32","type":"book-chapter","created":{"date-parts":[[2012,5,16]],"date-time":"2012-05-16T17:54:10Z","timestamp":1337190850000},"page":"141-144","source":"Crossref","is-referenced-by-count":5,"title":["A Genetic Defect in Muscle Phosphofructokinase Deficiency, A Typical Clinical Entity Presenting Myogenic Hyperuricemia"],"prefix":"10.1007","author":[{"given":"Hiromu","family":"Nakajima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Kono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoyuki","family":"Yamasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kikuko","family":"Hotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Kawachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoya","family":"Hamaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takamichi","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuo","family":"Mineo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masamichi","family":"Kuwajima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamio","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takehiko","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiichiro","family":"Tarui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"32_CR1","volume-title":"A common pathophysiologic feature of glycogenosis types III, V and VII","author":"I Mineo","year":"1987","unstructured":"I. Mineo, N. Kono, N. Hara, T. Shimizu, Y. Yamada, M. Kawachi, H. Kiyokawa, Y. L. Wang, and S. Tarui, Myogenic hyperuricemia: A common pathophysiologic feature of glycogenosis types III, V and VII, N. Engl. J. Med. 317:75 (1987)."},{"key":"32_CR2","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/0006-291X(65)90156-7","volume":"19","author":"S Tarui","year":"1965","unstructured":"S. Tarui, G. Okuno, Y. Ikura, T. Tanaka, M. Suda, and M. Nishikawa, Phosphofructokinase deficiency in skeletal muscle: A new type of glycogenosis, Biochem. Biophys. Res. Commun. 19: 517 (1965).","journal-title":"Biochem. Biophys. Res. Commun"},{"key":"32_CR3","volume-title":"Neurology","author":"N Kono","year":"1986","unstructured":"N. Kono, I. Mineo, T. Shimizu, N. Hara, Y. Yamada, K. Nonaka, and S. Tarui, Increased plasma uric acid after exercise in muscle phosphofructokinase deficiency, Neurology 36:106 (1986)."},{"key":"32_CR4","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/0014-5793(87)80519-7","volume":"223","author":"H Nakajima","year":"1987","unstructured":"H. Nakajima, T. Noguchi, T. Yamasaki, N. Kono, T. Tanaka, and S. Tarui, Cloning of human muscle phosphofructokinase cDNA, FEBS Lett. 223: 113 (1987).","journal-title":"FEBS Lett"},{"key":"32_CR5","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1007\/978-1-4684-5673-8_79","volume":"253","author":"H Nakajima","year":"1989","unstructured":"H. Nakajima, T. Noguchi, I. Mineo, T. Yamasaki, N. Kono, T. Tanaka, and S. Tarui, Molecular aspect of myogenic hyperuricemia: Cloning of human muscle phosphofructokinase cDNA, Adv. Exp. Med. Biol. 253A: 485 (1989).","journal-title":"Adv. Exp. Med. Biol"},{"key":"32_CR6","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1038\/309467a0","volume":"309","author":"RA Poorman","year":"1984","unstructured":"R. A. Poorman, A. Randolph, R. G. Kemp, and R. L. Heinrikson, Evolution of phosphofructokinase - gene duplication and creation of new effector sites, Nature 309: 467 (1984).","journal-title":"Nature"},{"key":"32_CR7","doi-asserted-by":"crossref","first-page":"4195","DOI":"10.1016\/S0021-9258(18)61332-8","volume":"262","author":"C-P Lee","year":"1987","unstructured":"C. -P. Lee, M. -C. Kao, B. A. French, S. D. Putney, and S. H. Chang, The rabbit muscle phosphofructokinase gene: Implication for protein structure, function and tissue specificity, J. Biol. Chem. 262: 4195 (1987).","journal-title":"J. Biol. Chem"},{"key":"32_CR8","volume-title":"Biochem. Biophys. Res. Commun. 166:637","author":"H Nakajima","year":"1990","unstructured":"H. Nakajima, T. Yamasaki, T. Noguchi, T. Tanaka, N. Kono, and S. Tarui, Evidence for alternative RNA splicing and possible alternative promoters in the human muscle phosphofructokinase gene at the 5\u2019 untranslated region, Biochem. Biophys. Res. Commun. 166:637 (1990)."},{"key":"32_CR9","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1016\/S0006-291X(05)80931-3","volume":"173","author":"H Nakajima","year":"1990","unstructured":"H. Nakajima, N. Kono, T. Yamasaki, T. Hamaguchi, K. Flotta, M. Kuwajima, T. Noguchi, T. Tanaka, and S. Tarui, Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and -L genes, Biochem. Biophys. Res. Commun. 173: 1317 (1990).","journal-title":"Biochem. Biophys. Res. Commun"},{"key":"32_CR10","unstructured":"T. Yamasaki, H. Nakajima, N. Kono, K. Hotta, K. Yamada, E. Imai, M. Kuwajima, T. Noguchi, T. Tanaka, and S. Tarui, Structure of the entire human muscle phosphofructokinase-encoding gene: A two promoter system, Gene in press."},{"key":"32_CR11","doi-asserted-by":"crossref","first-page":"9392","DOI":"10.1016\/S0021-9258(19)38861-1","volume":"265","author":"H Nakajima","year":"1990","unstructured":"H. Nakajima, N. Kono, T. Yamasaki, K. Hotta, M. Kawachi, M. Kuwajima, T. Noguchi, T. Tanaka, and S. Tarui, Genetic defect in muscle phosphofructokinase deficiency: Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5\u2019-splice site, J. Biol. Chem. 265: 9392 (1990).","journal-title":"J. Biol. Chem"},{"key":"32_CR12","volume-title":"Phil. Trans. R. Soc. Lond. B 293:53","author":"PR Evans","year":"1981","unstructured":"P. R. Evans, G. W. Farrants, and P. J. Hudson, Phosphofructokinase: Structure and control, Phil. Trans. R. Soc. Lond. B 293:53 (1981)."},{"key":"32_CR13","first-page":"45","volume":"47","author":"PY Chou","year":"1978","unstructured":"P. Y. Chou and G. D. Fasman, Prediction of the secondary structure of proteins from the amino acid sequence, Adv. Enzymol. 47: 45 (1978).","journal-title":"Adv. Enzymol"},{"key":"32_CR14","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1093\/nar\/10.2.459","volume":"10","author":"SM Mount","year":"1982","unstructured":"S. M. Mount, A catalogue of splice junction sequences, Nucl. Acids Res. 10: 459 (1982).","journal-title":"Nucl. Acids Res"},{"key":"32_CR15","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1016\/0092-8674(82)90452-4","volume":"29","author":"R Treisman","year":"1982","unstructured":"R. Treisman, N. J. Proudfoot, M. Shander, T. Maniatis, A single-base change at a splice site in a \u00df0- thalassemic gene causes abnormal RNA splicing, Cell 29: 903 (1982).","journal-title":"Cell"},{"key":"32_CR16","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1146\/annurev.ge.20.120186.003323","volume":"20","author":"MR Green","year":"1986","unstructured":"M. R. Green, Pre-mRNA splicing, Ann. Rev. Genet. 20: 671 (1986).","journal-title":"Ann. Rev. Genet"}],"container-title":["Advances in Experimental Medicine and Biology","Purine and Pyrimidine Metabolism in Man VII"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4615-7703-4_32","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,15]],"date-time":"2022-01-15T20:20:27Z","timestamp":1642278027000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-1-4615-7703-4_32"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991]]},"ISBN":["9781461577058","9781461577034"],"references-count":16,"URL":"https:\/\/doi.org\/10.1007\/978-1-4615-7703-4_32","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"type":"print","value":"0065-2598"},{"type":"electronic","value":"2214-8019"}],"subject":[],"published":{"date-parts":[[1991]]}}}