{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T08:05:55Z","timestamp":1765353955245},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1978,1,1]],"date-time":"1978-01-01T00:00:00Z","timestamp":252460800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1978]]},"DOI":"10.1007\/bf00272190","type":"journal-article","created":{"date-parts":[[2004,10,4]],"date-time":"2004-10-04T12:17:03Z","timestamp":1096892223000},"page":"293-304","source":"Crossref","is-referenced-by-count":17,"title":["Molecular and functional anomalies in two new mutant glucose-phosphate-isomerase variants with enzyme deficiency and chronic hemolysis"],"prefix":"10.1007","volume":"40","author":[{"given":"Axel","family":"Kahn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\ufffdl\ufffdne-Annie","family":"Buc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Girot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Cottreau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Griscelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1182\/blood.V41.5.691.691","volume":"41","author":"H. Arnold","year":"1973","unstructured":"Arnold, H., Blume, K. G., Engelhardt, R., L\ufffdhr, G. W.: Glucosephosphate isomerase deficiency. Evidence for in vivo instability of an enzyme variant with hemolysis. Blood 41, 691?699 (1973a)","journal-title":"Blood"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1007\/BF01468556","volume":"51","author":"H. Arnold","year":"1973","unstructured":"Arnold, H., Engelhardt, R., L\ufffdhr, G. W., Jacobi, H., Liebold, I.: Glucosephosphat-Isomerase Typ Recklinghausen: Eine neue Defektvariante mit h\ufffdmolytischer An\ufffdmie. Klin. Wochenschr. 51, 1198?1204 (1973b)","journal-title":"Klin. Wochenschr."},{"key":"CR3","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/BF01620756","volume":"52","author":"H. Arnold","year":"1974","unstructured":"Arnold, H., Hoffmann, A., Blume, K. G., Engelhardt, R., L\ufffdhr, G. W.: Zur Frage gewebespezifischer Isoenzyme der Glucosephosphatisomerase des Menschen. Klin. Wochenschr. 52, 149?151 (1974)","journal-title":"Klin. Wochenschr."},{"key":"CR4","first-page":"850","volume":"30","author":"M. A. Baughan","year":"1967","unstructured":"Baughan, M. A., Valentine, W. N., Paglia, D. E., Ways, P. O., Simon, E. R., Demarsh, Q. B.: Hereditary anemia associated with glucose phosphate isomerase deficiency. A new enzyme defect in human erythrocytes. Blood 30, 850 (1967)","journal-title":"Blood"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1182\/blood.V32.2.236.236","volume":"32","author":"M. A. Baughan","year":"1968","unstructured":"Baughan, M. A., Valentine, W. N., Paglia, D. E., Ways, P. O., Simon, E. R., Demarsh, Q. B.: Hereditary hemolytic anemia with glucose phosphate isomerase (GPI) deficiency, a new enzyme defect of human erythrocytes. Blood 32, 236?249 (1968)","journal-title":"Blood"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/S0300-9084(76)80432-4","volume":"58","author":"O. Bertrand","year":"1976","unstructured":"Bertrand, O., Kahn, A., Cottreau, D., Boivin, P.: Human leukocyte glucose phosphate isomerase. Purification by affinity elution and immunological study. Biochimie 58, 261?276 (1976)","journal-title":"Biochimie"},{"key":"CR7","volume-title":"Red cell metabolism, a manual of biochemical methods","author":"E. Beutler","year":"1971","unstructured":"Beutler, E.: Red cell metabolism, a manual of biochemical methods. New York, London: Grune and Stratton 1971"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"730","DOI":"10.7326\/0003-4819-80-6-730","volume":"80","author":"E. Beutler","year":"1974","unstructured":"Beutler, E., Sigalove, W. H., Angusmuir, W., Matsumoto, F., West, C.: Glucosephosphate (GPI) deficiency: GPI elyria. Ann. Intern. Med. 80, 730?732 (1974)","journal-title":"Ann. Intern. Med."},{"key":"CR9","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1111\/j.1651-2227.1975.tb03939.x","volume":"64","author":"J. P. G. M. Biervliet Van","year":"1975","unstructured":"Biervliet, J. P. G. M. Van: Glucosephosphate isomerase deficiency in a Dutch family. Acta Paediatr. Scand. 64, 868?972 (1975)","journal-title":"Acta Paediatr. Scand."},{"key":"CR10","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/0009-8981(75)90103-5","volume":"65","author":"J. P. G. M. Biervliet Van","year":"1975","unstructured":"Biervliet, J. P. G. M. Van, Milligen-Boersma, L. Van, Staal, G. E. J.: A new variant of glucose phosphate isomerase deficiency (GPI Utrecht). Clin. Chim. Acta 65, 157?165 (1975)","journal-title":"Clin. Chim. Acta"},{"key":"CR11","first-page":"791","volume":"25","author":"P. Cartier","year":"1967","unstructured":"Cartier, P., Leroux, J. P., Temkine, H.: Techniques de dosage des interm\ufffddiaires de la glycolyse dans les tissus. Ann. Biol. Clin. 25, 791?813 (1967a)","journal-title":"Ann. Biol. Clin."},{"key":"CR12","first-page":"1119","volume":"25","author":"P. Cartier","year":"1967","unstructured":"Cartier, P., Temkine, H.: Le 2?3 diphosphoglycerate et le glucose 1?6 diphosphate du globule rouge: techniques de dosage. Ann. Biol. Clin. 25, 1119?1128 (1967b)","journal-title":"Ann. Biol. Clin."},{"key":"CR13","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/j.1469-1809.1968.tb00565.x","volume":"31","author":"J. C. Detter","year":"1968","unstructured":"Detter, J. C., Ways, P. O., Giblett, E. R., Hopkinson, D. A., Povey, S., Harris, H.: Inherited variations in human phosphohexose isomerase. Ann. Hum. Genet. 31, 329?338 (1968)","journal-title":"Ann. Hum. Genet."},{"key":"CR14","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/0003-2697(74)90417-5","volume":"61","author":"R. A. P. Harrison","year":"1974","unstructured":"Harrison, R. A. P.: The detection of hexokinase, glucose phosphate isomerase and phosphoglucomutase activities in polyacrylamide gels after electrophoresis. A novel method using immobilized glucose 6 phosphate dehydrogenase. Anal. Biochem. 61, 500?507 (1974)","journal-title":"Anal. Biochem."},{"key":"CR15","doi-asserted-by":"crossref","first-page":"2178","DOI":"10.1016\/S0021-9258(18)64594-6","volume":"235","author":"S. E. Kahana","year":"1960","unstructured":"Kahana, S. E., Lowry, O. H., Schulz, D. W., Passoneau, J. V., Cranford, E. J.: The kinetics of phosphoglucose isomerase. J. Biol. Chem. 235, 2178?2184 (1960)","journal-title":"J. Biol. Chem."},{"key":"CR16","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1182\/blood.V48.5.653.653","volume":"48","author":"A. Kahn","year":"1976","unstructured":"Kahn, A., Cottreau, D., Boyer, C., Marie, J., Galand, C., Boivin, P.: Causal mechanisms of multiple acquired red cell enzyme defects in a patient with acquired dyserythropoiesis. Blood 48, 653?662 (1976a)","journal-title":"Blood"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/0009-8981(76)90051-6","volume":"66","author":"A. Kahn","year":"1976","unstructured":"Kahn, A., Vives-Corron, J. C., Bertrand, O., Cottreau, D., Marie, J., Boivin, P.: Glucose phosphate isomerase deficiency due to a new variant (GPI Barcelona) and to a silent gene. Biochemical, immunological and genetic studies. Clin. Chim. Acta 66, 145?155 (1976b)","journal-title":"Clin. Chim. Acta"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1203\/00006450-197711000-00001","volume":"11","author":"A. Kahn","year":"1977","unstructured":"Kahn, A., Biervliet, J. P. M. Van, Vives-Corrons, J. L., Cottreau, D., Staal, G. E. J.: Genetic and molecular mechanisms of the congenital defects in glucosephosphate isomerase activity. Studies of four families. Pediatr. Res. 11, 1123?1129 (1977)","journal-title":"Pediatr. Res."},{"key":"CR19","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1016\/S0076-6879(67)11096-3","volume":"11","author":"L. Levine","year":"1967","unstructured":"Levine, L., Vunakis, H. Van: Micro complement fixation. Methods Enzymol 11, 928?936 (1967)","journal-title":"Methods Enzymol"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","volume":"193","author":"O. H. Lowry","year":"1951","unstructured":"Lowry, O. H., Rosebrough, N. J., Farr, A. L., Randall, R. J.: Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193, 265?275 (1951)","journal-title":"J. Biol. Chem."},{"key":"CR21","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1126\/science.179.4078.1129","volume":"179","author":"F. A. McMorris","year":"1973","unstructured":"McMorris, F. A., Chen, T. R., Ricciuti, F., Tischfield, J., Creagan, R., Ruddle, F.: Chromosome assignments in man of the genes for two hexosephosphate isomerases. Science 179, 1129?1131 (1973)","journal-title":"Science"},{"key":"CR22","first-page":"238","volume":"38","author":"S. Miwa","year":"1975","unstructured":"Miwa, S., Nakashima, K., Tajiri, M., Ono, J., Abe, S., Oda, E., Nonaka, H., Matsuoka, I., Shimoyama, S., Hirata, Y., Amaki, I., Yamaguchi, H., Nishina, T.: Three cases in two families with congenital non spherocytic hemolytic anemia due to defective glucosephosphate isomerase: GPI Matsumoto. Acta Haematol Jpn. 38, 238?247 (1975)","journal-title":"Acta Haematol Jpn."},{"key":"CR23","first-page":"1379","volume":"104","author":"E. M\ufffdller","year":"1974","unstructured":"M\ufffdller, E., Marti, H. R., Bach, J. L., Gasser, C.: Heredit\ufffdre nicht sph\ufffdrozyt\ufffdre h\ufffdmolytische An\ufffdmie durch Glukosephosphatisomerase-Mangel: der erste in der Schweiz beobachtete Fall. Schweiz. Med. Wochenschr. 104, 1379?1382 (1974)","journal-title":"Schweiz. Med. Wochenschr."},{"key":"CR24","first-page":"427","volume":"19","author":"F. Oski","year":"1971","unstructured":"Oski, F., Fuller, E.: Glucose-phosphate isomerase deficiency associated with abnormal osmotic fragility and spherocytes. Clin. Res. 19, 427 (1971)","journal-title":"Clin. Res."},{"key":"CR25","first-page":"1","volume":"5","author":"O. Ouchterlony","year":"1958","unstructured":"Ouchterlony, O.: Diffusion in gel Methods for immunological analysis. Progr. Allergy 5, 1 (1958)","journal-title":"Progr. Allergy"},{"key":"CR26","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1093\/ajcp\/62.6.740","volume":"62","author":"D. E. Paglia","year":"1974","unstructured":"Paglia, D. E., Valentine, W. N.: Hereditary glucose phosphate isomerase deficiency. A review. Am. J. Clin. Pathol. 62, 740?751 (1974)","journal-title":"Am. J. Clin. Pathol."},{"key":"CR27","first-page":"62","volume":"27","author":"D. E. Paglia","year":"1975","unstructured":"Paglia, D. E., Paredes, R., Valentine, W. N., Dorantes, S., Konrad, P. N.: Unique phenotypic expression of glucose-phosphate isomerase deficiency. Am. J. Hum. Genet. 27, 62?70 (1975)","journal-title":"Am. J. Hum. Genet."},{"key":"CR28","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/0003-9861(72)90480-8","volume":"151","author":"D. M. Payne","year":"1972","unstructured":"Payne, D. M., Porter, D. W., Gracy, R. W.: Evidence against the occurrence of tissue specific variants and isoenzymes of phosphoglucose isomerase. Arch. Biochem. Biophys. 151, 122?127 (1972)","journal-title":"Arch. Biochem. Biophys."},{"key":"CR29","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/242165a0","volume":"242","author":"F. H. Ruddle","year":"1973","unstructured":"Ruddle, F. H.: Linkage analysis in man by somatic cell hybrids. Nature 242, 165?169 (1973)","journal-title":"Nature"},{"key":"CR30","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/BF00394191","volume":"29","author":"J. L. Vives-Corrons","year":"1975","unstructured":"Vives-Corrons, J. L., Rozman, C., Kahn, A., Carrera, A., Triginer, J.: Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: Clinical and familial studies. Hum. Genet. 29, 291?297 (1975)","journal-title":"Hum. Genet."}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00272190.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00272190\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00272190","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,26]],"date-time":"2021-06-26T04:24:16Z","timestamp":1624681456000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00272190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1978]]}},"alternative-id":["BF00272190"],"URL":"https:\/\/doi.org\/10.1007\/bf00272190","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978]]}}}