{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T21:51:25Z","timestamp":1789163485038,"version":"build-2803163510"},"reference-count":13,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T00:00:00Z","timestamp":1613088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1016\/j.ymgmr.2021.100730","type":"journal-article","created":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T08:39:26Z","timestamp":1614069566000},"page":"100730","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["Aldolase A deficiency: Report of new cases and literature review"],"prefix":"10.1016","volume":"27","author":[{"given":"C.","family":"Papadopoulos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Svingou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kekou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Vergnaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Xirou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Niotakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.K.","family":"Papadimas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2021.100730_bb0005","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/BF00283044","article-title":"Molecular gene mapping of human aldolase A (ALDOA) gene to chromosome 16","volume":"76","author":"Kukita","year":"1987","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgmr.2021.100730_bb0010","first-page":"154","article-title":"Red cell aldolase deficiency and hemolytic anemia: a new syndrome","volume":"86","author":"Beutler","year":"1973","journal-title":"Trans. Assoc. Am. Phys."},{"issue":"4","key":"10.1016\/j.ymgmr.2021.100730_bb0015","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ajh.2830110412","article-title":"Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family","volume":"11","author":"Miwa","year":"1981","journal-title":"Am. J. Hematol."},{"issue":"23","key":"10.1016\/j.ymgmr.2021.100730_bb0020","doi-asserted-by":"crossref","first-page":"8623","DOI":"10.1073\/pnas.84.23.8623","article-title":"Human aldolase a deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation","volume":"84","author":"Kishi","year":"1987","journal-title":"Proc Natl AcadSci U S A."},{"issue":"17","key":"10.1016\/j.ymgmr.2021.100730_bb0025","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1056\/NEJM199604253341705","article-title":"Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A","volume":"334","author":"Kreuder","year":"1996","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.ymgmr.2021.100730_bb0030","doi-asserted-by":"crossref","first-page":"2401","DOI":"10.1182\/blood-2003-09-3160","article-title":"Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte\/muscle isozyme of aldolase, ALDOA(Arg303X\/Cys338Tyr)","volume":"103","author":"Yao","year":"2004","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.ymgmr.2021.100730_bb0035","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004711","article-title":"A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia","volume":"10","author":"Mamoune","year":"2014","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ymgmr.2021.100730_bb0040","series-title":"Muscle Biopsy: A Practical Approach: Expert Consult","author":"Dubowitz","year":"2013"},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100730_bb0045","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/BF00270403","article-title":"Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency: studies of some properties of erythrocyte and muscle enzyme","volume":"31","author":"Etiemble","year":"1976","journal-title":"Hum. Genet."},{"issue":"5","key":"10.1016\/j.ymgmr.2021.100730_bb0050","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/jimd.12087","article-title":"Phosphoglycerate kinase deficiency: a nationwide multicenter retrospective study","volume":"42","author":"Echaniz-Laguna","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"issue":"12","key":"10.1016\/j.ymgmr.2021.100730_bb0055","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1023\/A:1021828421792","article-title":"Differential distribution of aldolase A and C in the human central nervous system","volume":"30","author":"Buono","year":"2001","journal-title":"J. Neurocytol."},{"key":"10.1016\/j.ymgmr.2021.100730_bb0060","series-title":"Nutritional Needs in Hot Environments: Applications for Military Personnel in Field Operations","author":"Institute of Medicine (US) Committee on Military Nutrition Research","year":"1993"},{"issue":"5","key":"10.1016\/j.ymgmr.2021.100730_bb0065","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1111\/j.1440-1711.2000.t01-11-.x","article-title":"Special feature for the Olympics: effects of exercise on the immune system: exercise and cytokines","volume":"78","author":"Pedersen","year":"2000","journal-title":"Immunol. Cell Biol."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426921000240?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426921000240?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:52:18Z","timestamp":1762001538000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426921000240"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":13,"alternative-id":["S2214426921000240"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100730","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Aldolase A deficiency: Report of new cases and literature review","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100730","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100730"}}