{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T01:28:40Z","timestamp":1789176520948,"version":"build-2803163510"},"reference-count":58,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2000,3,1]],"date-time":"2000-03-01T00:00:00Z","timestamp":951868800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Best Practice &amp; Research Clinical Haematology"],"published-print":{"date-parts":[[2000,3]]},"DOI":"10.1053\/beha.1999.0059","type":"journal-article","created":{"date-parts":[[2002,9,19]],"date-time":"2002-09-19T13:54:50Z","timestamp":1032443690000},"page":"89-101","source":"Crossref","is-referenced-by-count":77,"title":["Glucose-6-phosphate isomerase deficiency"],"prefix":"10.1053","volume":"13","author":[{"given":"Wilfried","family":"Kugler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Lakomek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/beha.1999.0059_RF1","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1182\/blood.V32.2.236.236","article-title":"Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency\u2014a new enzyme defect of human erythrocytes","volume":"32","author":"Baughan","year":"1968","journal-title":"Blood"},{"key":"10.1053\/beha.1999.0059_RF2","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1056\/NEJM198701293160506","article-title":"Glucose phosphate isomerase deficiency as a cause of hydrops fetalis","volume":"316","author":"Ravindranath","year":"1987","journal-title":"New England Journal of Medicine"},{"key":"10.1053\/beha.1999.0059_RF3","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1136\/jmg.16.3.189","article-title":"Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis","volume":"16","author":"Whitelaw","year":"1979","journal-title":"Journal of Medical Genetics"},{"key":"10.1053\/beha.1999.0059_RF4","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/BF01695868","article-title":"GPI Mount Scopus\u2014a variant of glucose-phosphate isomerase deficiency","volume":"67","author":"Shalev","year":"1993","journal-title":"Annals of Hematology"},{"key":"10.1053\/beha.1999.0059_RF5","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/BF00441768","article-title":"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)","volume":"144","author":"Schr\u00f6ter","year":"1985","journal-title":"European Journal of Paediatrics"},{"key":"10.1053\/beha.1999.0059_RF6","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/BF00320579","article-title":"Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants","volume":"53","author":"Eber","year":"1986","journal-title":"Blut"},{"key":"10.1053\/beha.1999.0059_RF7","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1365-2141.1993.tb04675.x","article-title":"Iron status in red cell pyruvate kinase deficiency: study of Italian cases","volume":"83","author":"Zanella","year":"1993","journal-title":"British Journal of Haematology"},{"key":"10.1053\/beha.1999.0059_RF8","doi-asserted-by":"crossref","first-page":"2306","DOI":"10.1182\/blood.V88.6.2306.bloodjournal8862306","article-title":"Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia","volume":"88","author":"Baronciani","year":"1996","journal-title":"Blood"},{"key":"10.1053\/beha.1999.0059_RF9","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/j.1365-2141.1980.tb05946.x","article-title":"Increased transferrin iron saturation in splenectomized thalassaemic patients","volume":"46","author":"Pootrakul","year":"1980","journal-title":"British Journal of Haematology"},{"key":"10.1053\/beha.1999.0059_RF10","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1159\/000205215","article-title":"Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency","volume":"83","author":"Neubauer","year":"1990","journal-title":"Acta Haematologica"},{"key":"10.1053\/beha.1999.0059_RF11","doi-asserted-by":"crossref","first-page":"351","DOI":"10.3109\/07357909009012053","article-title":"The diagnostic validity of the serum tumor marker phosphohexose isomerase (PHI) in patients with gastrointestinal, kidney, and breast cancer","volume":"8","author":"Baumann","year":"1990","journal-title":"Cancer Investigations"},{"key":"10.1053\/beha.1999.0059_RF12","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1159\/000217737","article-title":"Serum phosphohexose isomerase activities in patients with colorectal cancer","volume":"12","author":"Filella","year":"1991","journal-title":"Tumor Biology"},{"key":"10.1053\/beha.1999.0059_RF13","first-page":"271","article-title":"Comparison between serum levels of carcinoembryonic antigen, sialic acid and phosphohexose isomerase in lung cancer","volume":"42","author":"Patel","year":"1995","journal-title":"Neoplasia"},{"key":"10.1053\/beha.1999.0059_RF14","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1002\/1097-0142(197601)37:1+<542::AID-CNCR2820370719>3.0.CO;2-G","article-title":"Laboratory aids to diagnosis: enzymes","volume":"37","author":"Schwartz","year":"1976","journal-title":"Cancer"},{"key":"10.1053\/beha.1999.0059_RF15","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1182\/blood.V81.1.206.206","article-title":"Glucose-6-phosphate isomerase deficiency associated with nonspherocytic hemolytic anemia in the mouse: an animal model for the human disease","volume":"81","author":"Merkle","year":"1993","journal-title":"Blood"},{"key":"10.1053\/beha.1999.0059_RF16","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1093\/ajcp\/62.6.740","article-title":"Hereditary glucose phosphate isomerase deficiency. A review","volume":"62","author":"Paglia","year":"1974","journal-title":"American Journal of Clinical Pathology"},{"key":"10.1053\/beha.1999.0059_RF17","first-page":"7018","article-title":"Purification and characterization of phosphohexose isomerase from human gastrointestinal carcinoma and its potential relationship to neuroleukin","volume":"48","author":"Baumann","year":"1988","journal-title":"Cancer Research"},{"key":"10.1053\/beha.1999.0059_RF18","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/0003-9861(90)90621-5","article-title":"Isolation and characterization of human glucose-6-phosphate isomerase isoforms containing two different size subunits","volume":"283","author":"Sun","year":"1990","journal-title":"Archives of Biochemistry and Biophysics"},{"key":"10.1053\/beha.1999.0059_RF19","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/0167-4838(89)90286-0","article-title":"Cell age dependent decay of human erythrocytes glucose-6-phosphate isomerase","volume":"998","author":"Fazi","year":"1989","journal-title":"Biochimica et Biophysica Acta"},{"key":"10.1053\/beha.1999.0059_RF20","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/bcmd.1997.0157","article-title":"Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA)","volume":"23","author":"Beutler","year":"1997","journal-title":"Blood Cells, Molecules, and Diseases"},{"key":"10.1053\/beha.1999.0059_RF21","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1007\/s004310050674","article-title":"Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia","volume":"156","author":"Huppke","year":"1997","journal-title":"European Journal of Paediatrics"},{"key":"10.1053\/beha.1999.0059_RF22","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/hmg\/2.3.327","article-title":"DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency","volume":"2","author":"Walker","year":"1993","journal-title":"Human Molecular Genetics"},{"key":"10.1053\/beha.1999.0059_RF23","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1126\/science.179.4078.1129","article-title":"Chromosome assignments in man of the genes for two hexosephosphate isomerases","volume":"179","author":"McMorris","year":"1973","journal-title":"Science"},{"key":"10.1053\/beha.1999.0059_RF24","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1006\/geno.1995.9944","article-title":"Human glucose phosphate isomerase: exon mapping and gene structure","volume":"29","author":"Xu","year":"1995","journal-title":"Genomics"},{"key":"10.1053\/beha.1999.0059_RF25","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/BF00361390","article-title":"Characterization of a porcine glucosephosphate isomerase-processed pseudogene at chromosome 1q1\u00b76\u20131\u00b77","volume":"4","author":"Harbitz","year":"1993","journal-title":"Mammalian Genome"},{"key":"10.1053\/beha.1999.0059_RF26","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1093\/genetics\/123.4.837","article-title":"Characterization of triosephosphate isomerase mutants with reduced enzyme-activity in Mus musculus","volume":"123","author":"Merkle","year":"1989","journal-title":"Genetics"},{"key":"10.1053\/beha.1999.0059_RF27","first-page":"309","article-title":"A glucosephosphate isomerase (GPI) null mutation in Mus musculus: evidence that anaerobic glycolysis is the predominant energy delivering pathway in early post-implantation embryos","volume":"101","author":"Merkle","year":"1992","journal-title":"Comparative Biochemical Physiology [B]"},{"key":"10.1053\/beha.1999.0059_RF28","first-page":"13a","article-title":"Molecular heterogeneity of pyruvate kinase deficiency identified by single strand conformation polymorphism (SSCP) analysis","volume":"84","author":"Kanno","year":"1994","journal-title":"Blood"},{"key":"10.1053\/beha.1999.0059_RF29","first-page":"3","article-title":"Isozymes of phosphofructokinase: biochemical and genetic aspects","volume":"11","author":"Vora","year":"1983","journal-title":"Isozymes Current Topics in Biological and Medical Research"},{"key":"10.1053\/beha.1999.0059_RF30","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1006\/bcmd.1997.0154","article-title":"An exonic polymorphism in the human glucose phosphate isomerase (GPI) gene","volume":"23","author":"Xu","year":"1997","journal-title":"Blood Cells, Molecules, and Diseases"},{"key":"10.1053\/beha.1999.0059_RF31","doi-asserted-by":"crossref","first-page":"2326","DOI":"10.1172\/JCI117597","article-title":"The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia","volume":"94","author":"Xu","year":"1994","journal-title":"Journal of Clinical Investigation"},{"key":"10.1053\/beha.1999.0059_RF32","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1182\/blood.V88.6.2321.bloodjournal8862321","article-title":"Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia","volume":"88","author":"Kanno","year":"1996","journal-title":"Blood"},{"key":"10.1053\/beha.1999.0059_RF33","doi-asserted-by":"crossref","first-page":"4324","DOI":"10.1073\/pnas.90.9.4324","article-title":"Analysis of pyruvate kinase deficiency mutations that produce nonspherocytic hemolytic anemia","volume":"90","author":"Baronciani","year":"1993","journal-title":"Proceedings of the National Academy of Sciences of the USA"},{"key":"10.1053\/beha.1999.0059_RF34","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1006\/bcmd.1996.0019","article-title":"The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families","volume":"22","author":"Schneider","year":"1996","journal-title":"Blood Cells, Molecules, and Diseases"},{"key":"10.1053\/beha.1999.0059_RF35","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1098\/rstb.1981.0068","article-title":"Glucose-6-phosphate isomerase","volume":"239","author":"Achari","year":"1981","journal-title":"Philosophical Transactions of the Royal Society of London"},{"key":"10.1053\/beha.1999.0059_RF36","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/S0022-2836(77)80025-9","article-title":"Crystallographic structure analysis of glucose-6-phosphate isomerase at 3\u00b75 \u00c5 resolution","volume":"109","author":"Shaw","year":"1977","journal-title":"Journal of Molecular Biology"},{"key":"10.1053\/beha.1999.0059_RF37","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/0079-6107(93)90001-Z","article-title":"Evolution of glycolysis","volume":"59","author":"Fothergill-Gilmore","year":"1993","journal-title":"Progress in Biophysics and Molecular Biology"},{"key":"10.1053\/beha.1999.0059_RF38","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/0014-5793(76)80619-9","article-title":"The active site of glucose phosphate isomerase","volume":"65","author":"Shaw","year":"1976","journal-title":"FEBS Letters"},{"key":"10.1053\/beha.1999.0059_RF39","unstructured":"Davies, C, The Three-Dimensional Structure of Glucose-6-Phosphate Isomerase, University of Bristol, 1991"},{"key":"10.1053\/beha.1999.0059_RF40","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1007\/s004390050849","article-title":"Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency","volume":"103","author":"Kugler","year":"1998","journal-title":"Human Genetics"},{"key":"10.1053\/beha.1999.0059_RF41","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1126\/science.3020690","article-title":"Neuroleukin: a lymphokine product of lectin-stimulated T cells","volume":"234","author":"Gurney","year":"1986","journal-title":"Science"},{"key":"10.1053\/beha.1999.0059_RF42","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1126\/science.3764429","article-title":"Molecular cloning and expression of neuroleukin, a neurotrophic factor for spinal and sensory neurons","volume":"234","author":"Gurney","year":"1986","journal-title":"Science"},{"key":"10.1053\/beha.1999.0059_RF43","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/332454a0","article-title":"The neurotrophic factor neuroleukin is 90% homologous with phospho-hexose isomerase","volume":"332","author":"Chaput","year":"1988","journal-title":"Nature"},{"key":"10.1053\/beha.1999.0059_RF44","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/332455a0","article-title":"Mouse glucose-6-phosphate isomerase and neuroleukin have identical 3\u2032 sequences","volume":"332","author":"Faik","year":"1988","journal-title":"Nature"},{"key":"10.1053\/beha.1999.0059_RF45","doi-asserted-by":"crossref","first-page":"4502","DOI":"10.1182\/blood.V87.11.4502.bloodjournal87114502","article-title":"The differentiation and maturation mediator for human myeloid leukemia cells shares homology with neuroleukin or phosphoglucose isomerase","volume":"87","author":"Xu","year":"1996","journal-title":"Blood"},{"key":"10.1053\/beha.1999.0059_RF46","first-page":"2960","article-title":"Tumor cell autocrine motility factor is the neuroleukin\/phosphohexose isomerase polypeptide","volume":"56","author":"Watanabe","year":"1996","journal-title":"Cancer Research"},{"key":"10.1053\/beha.1999.0059_RF47","first-page":"525","article-title":"Haematological studies in a new variant of glucosephosphate isomerase deficiency (GPI Utrecht)","volume":"30","author":"Helleman","year":"1976","journal-title":"Helvetica Paediatrica Acta"},{"key":"10.1053\/beha.1999.0059_RF48","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF00272190","article-title":"Molecular and functional anomalies in two new mutant glucose-phosphate-isomerase variants with enzyme deficiency and chronic hemolysis","volume":"40","author":"Kahn","year":"1978","journal-title":"Human Genetics"},{"key":"10.1053\/beha.1999.0059_RF49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajh.2830090102","article-title":"The first stable variant of erythrocyte glucose-phosphate isomerase associated with severe hemolytic anemia","volume":"9","author":"Zanella","year":"1980","journal-title":"American Journal of Hematology"},{"key":"10.1053\/beha.1999.0059_RF50","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1111\/j.1651-2227.1977.tb07899.x","article-title":"Excessive hepatic glycogen storage in glucosephosphate isomerase deficiency","volume":"66","author":"van Biervliet","year":"1977","journal-title":"Acta Paediatrica Scandinavica"},{"key":"10.1053\/beha.1999.0059_RF51","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1056\/NEJM198410113111501","article-title":"Inhibition of terminal axonal sprouting by serum from patients with amyotrophic lateral sclerosis","volume":"311","author":"Gurney","year":"1984","journal-title":"New England Journal of Medicine"},{"key":"10.1053\/beha.1999.0059_RF52","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1126\/science.3039662","article-title":"Functional interaction and partial homology between human immunodeficiency virus and neuroleukin","volume":"237","author":"Lee","year":"1987","journal-title":"Science"},{"key":"10.1053\/beha.1999.0059_RF53","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/jnr.490230212","article-title":"Neurotrophic activity of monomeric glucophosphoisomerase was blocked by human immunodeficiency virus (HIV-1) and peptides from HIV-1 envelope glycoprotein","volume":"23","author":"Mizrachi","year":"1989","journal-title":"Journal of Neuroscience Research"},{"key":"10.1053\/beha.1999.0059_RF54","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0968-0004(98)01208-0","article-title":"A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance","volume":"23","author":"Nagy","year":"1998","journal-title":"Trends in Biochemical Sciences"},{"key":"10.1053\/beha.1999.0059_RF55","doi-asserted-by":"crossref","first-page":"3847","DOI":"10.1182\/blood.V89.10.3847","article-title":"Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients","volume":"89","author":"Zanella","year":"1997","journal-title":"Blood"},{"key":"10.1053\/beha.1999.0059_RF56","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1182\/blood.V89.5.1793","article-title":"Molecular analysis of 29 pyruvate-kinase-deficient patients from central Europe with hereditary hemolytic anemia","volume":"89","author":"Lenzner","year":"1997","journal-title":"Blood"},{"key":"10.1053\/beha.1999.0059_RF57","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/0168-9525(92)90301-J","article-title":"The spectrum of cystic fibrosis mutations","volume":"8","author":"Tsui","year":"1992","journal-title":"Trends in Genetics"},{"key":"10.1053\/beha.1999.0059_RF58","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/j.1365-2141.1989.tb07730.x","article-title":"On the diagnosis of erythrocyte enzyme defects in the presence of high reticulocyte counts","volume":"72","author":"Lakomek","year":"1989","journal-title":"British Journal of Haematology"}],"container-title":["Best Practice &amp; Research Clinical Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521692699900592?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521692699900592?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,16]],"date-time":"2021-05-16T06:00:36Z","timestamp":1621144836000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521692699900592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,3]]},"references-count":58,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,3]]}},"alternative-id":["S1521692699900592"],"URL":"https:\/\/doi.org\/10.1053\/beha.1999.0059","relation":{},"ISSN":["1521-6926"],"issn-type":[{"value":"1521-6926","type":"print"}],"subject":[],"published":{"date-parts":[[2000,3]]}}}