{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T04:47:47Z","timestamp":1778561267518,"version":"3.51.4"},"reference-count":31,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2017]]},"DOI":"10.5582\/irdr.2017.01020","type":"journal-article","created":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T22:07:59Z","timestamp":1495577279000},"page":"132-136","source":"Crossref","is-referenced-by-count":15,"title":["A novel &lt;i&gt;PGK1&lt;\/i&gt; mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria"],"prefix":"10.5582","volume":"6","author":[{"given":"Shigeto","family":"Matsumaru","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Oguni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromi","family":"Ogura","sequence":"additional","affiliation":[{"name":"Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Shimojima","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Nagata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Kanno","sequence":"additional","affiliation":[{"name":"Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Beutler E. PGK deficiency. Br J Haematol. 2007; 136:3-11.","DOI":"10.1111\/j.1365-2141.2006.06351.x"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Fujii H, Kanno H, Hirono A, Shiomura T, Miwa S. A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. Blood. 1992; 79:1582-1585.","DOI":"10.1182\/blood.V79.6.1582.1582"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Tamai M, Kawano T, Saito R, Sakurai K, Saito Y, Yamada H, Ida H, Akiyama M. Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A&gt;G) manifesting as chronic hemolytic anemia in a Japanese boy. Int J Hematol. 2014;100:393-397.","DOI":"10.1007\/s12185-014-1615-x"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Shimojima K, Okamoto N, Yamamoto T. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. Am J Med Genet A. 2016; 170A:1076-1079.","DOI":"10.1002\/ajmg.a.37545"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Higasa K, Miyake N, Yoshimura J. et al. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet. 2016; 61:547-553.","DOI":"10.1038\/jhg.2016.12"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Yoshida A, Watanabe S, Chen SH, Giblet ER, Malcolm LA. Human phosphoglycerate kinase. II. Structure of a variant enzyme. J Biol Chem. 1972; 247:446-449.","DOI":"10.1016\/S0021-9258(19)45723-2"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Fujii H, Krietsch WK, Yoshida A. A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK Munchen) associated with enzyme deficiency. J Biol Chem. 1980; 255:6421-6423.","DOI":"10.1016\/S0021-9258(18)43755-6"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Fujii H, Yoshida A. Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. Proc Natl Acad Sci U S A.1980; 77:5461-5465.","DOI":"10.1073\/pnas.77.9.5461"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Rosa R, George C, Fardeau M, Calvin MC, Rapin M, Rosa J. A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood. 1982;60:84-91.","DOI":"10.1182\/blood.V60.1.84.84"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Sugie H, Sugie Y, Nishida M, Ito M, Tsurui S, Suzuki M, Miyamoto R, Igarashi Y. Recurrent myoglobinuria in a child with mental retardation: Phosphoglycerate kinase deficiency. J Child Neurol. 1989; 4:95-99.","DOI":"10.1177\/088307388900400203"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Maeda M, Yoshida A. Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T\/A----C\/G transition in exon 3. Blood. 1991; 77:1348-1352.","DOI":"10.1182\/blood.V77.6.1348.1348"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Cohen-Solal M, Valentin C, Plassa F, Guillemin G, Danze F, Jaisson F, Rosa R. Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens. Blood. 1994; 84:898-903.","DOI":"10.1182\/blood.V84.3.898.898"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, Chen YT, DiMauro S. A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). Ann Neurol. 1994; 35:349-353.","DOI":"10.1002\/ana.410350316"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Turner G, Fletcher J, Elber J, Yanagawa Y, Dav\u00e9 V, Yoshida A. Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred. Br J Haematol. 1995; 91:60-65.","DOI":"10.1111\/j.1365-2141.1995.tb05245.x"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Yoshida A, Twele TW, Dav\u00e9 V, Beutler E. Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama). Blood Cells Mol Dis. 1995; 21:179-181.","DOI":"10.1006\/bcmd.1995.0020"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Ookawara T1, Dav\u00e9 V, Willems P, Martin JJ, de Barsy T, Matthys E, Yoshida A. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. Arch Biochem Biophys. 1996; 327:35-40.","DOI":"10.1006\/abbi.1996.0089"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Valentin C, Birgens H, Craescu CT, Br\u00f8dum-Nielsen K, Cohen-Solal M. A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: Mechanism of mutation and structure-function relationships. Hum Mutat. 1998; 12:280-287.","DOI":"10.1002\/(SICI)1098-1004(1998)12:4<280::AID-HUMU10>3.0.CO;2-V"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Hamano T, Mutoh T, Sugie H, Koga H, Kuriyama M. Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation. Neurology. 2000; 54:1188-1190.","DOI":"10.1212\/WNL.54.5.1188"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Morimoto A, Ueda I, Hirashima Y, Sawai Y, Usuku T, Kano G, Kuriyama K, Todo S, Sugimoto T, Kanno H, Fujii H, Imashuku S. A novel missense mutation (1060G --&gt; C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis. Br J Haematol. 2003; 122:1009-1013.","DOI":"10.1046\/j.1365-2141.2003.04543.x"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Flanagan JM, Rhodes M, Wilson M, Beutler E. The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. Br J Haematol. 2006; 134:233-237.","DOI":"10.1111\/j.1365-2141.2006.06143.x"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Noel N, Flanagan JM, Ramirez Bajo MJ, Kalko SG, Ma\u00f1\u00fa Mdel M, Garcia Fuster JL, Perez de la Ossa P, Carreras J, Beutler E, Vives Corrons JL. Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain. Br J Haematol. 2006; 132:523-529.","DOI":"10.1111\/j.1365-2141.2005.05882.x"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Shirakawa K, Takahashi Y, Miyajima H. Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing. Neurology. 2006; 66:925-927.","DOI":"10.1212\/01.wnl.0000203500.63884.39"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Svaasand EK, Aasly J, Landsem VM, Klungland H. Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. Muscle Nerve. 2007; 36:679-684.","DOI":"10.1002\/mus.20859"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Sotiriou E, Greene P, Krishna S, Hirano M, DiMauro S. Myopathy and parkinsonism in phosphoglycerate kinase deficiency. Muscle Nerve. 2010; 41:707-710.","DOI":"10.1002\/mus.21612"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Ram\u00edrez-Bajo MJ, Repiso A, la Ossa PP, Ba\u00f1\u00f3n-Maneus E, de Atauri P, Climent F, Corrons JL, Cascante M, Carreras J. Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation. Blood Cells Mol Dis. 2011; 46:206-211.","DOI":"10.1016\/j.bcmd.2010.12.009"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandar\u00e0 GM, Vercellati C, Marcello AP, Barcellini W, Cortelezzi A, Valentini G, Zanella A. A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization. Mol Genet Metab. 2012; 106:455-461.","DOI":"10.1016\/j.ymgme.2012.05.015"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Coppens S, Koralkova P, Aeby A, Mojzikova R, Deconinck N, Kadhim H, van Wijk R. Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency. Neuromuscul Disord. 2016; 26:207-210.","DOI":"10.1016\/j.nmd.2015.11.008"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Rhodes M, Ashford L, Manes B, Calder C, Domm J, Frangoul H. Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiency. Br J Haematol. 2011; 152:500-502.","DOI":"10.1111\/j.1365-2141.2010.08474.x"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Schr\u00f6ter W, Eber SW, Bardosi A, Gahr M, Gabriel M, Sitzmann FC. Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: A new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg). Eur J Pediatr. 1985; 144:301-305.","DOI":"10.1007\/BF00441768"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Aissa K, Kamoun F, Sfaihi L, Ghedira ES, Aloulou H, Kamoun T, Pissard S, Hachicha M. Hemolytic anemia and progressive neurologic impairment: Think about triosephosphate isomerase deficiency. Fetal Pediatr Pathol. 2014; 33:234-238","DOI":"10.3109\/15513815.2014.915365"},{"key":"31","unstructured":"31. Sakaue S, Kasai T, Mizuta I, Suematsu M, Osone S, Azuma Y, Imamura T, Tokuda T, Kanno H, El-Agnaf OMA, Morimoto M, Nakagawa M, Hosoi H, Mizuno T. Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: Do PGK-1 mutations contribute to vulnerability to parkinsonism? NPJ Parkinson&apos;s Disease. 2017; 3:13."}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/6\/2\/6_2017.01020\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T08:52:04Z","timestamp":1719219124000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/6\/2\/6_2017.01020\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2017.01020","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2017]]}}}