{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T14:16:05Z","timestamp":1789654565791,"version":"4.0.1"},"reference-count":27,"publisher":"Massachusetts Medical Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N Engl J Med"],"published-print":{"date-parts":[[2014,2,6]]},"DOI":"10.1056\/nejmoa1206605","type":"journal-article","created":{"date-parts":[[2014,2,5]],"date-time":"2014-02-05T22:04:20Z","timestamp":1391637860000},"page":"533-542","source":"Crossref","is-referenced-by-count":249,"title":["Multiple Phenotypes in Phosphoglucomutase 1 Deficiency"],"prefix":"10.1056","volume":"370","author":[{"given":"Laura C.","family":"Tegtmeyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Rust","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"van Scherpenzeel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bobby G.","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Estelle","family":"Losfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharita","family":"Timal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiyo","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mie","family":"Ichikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris","family":"Veltman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Huijben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoon S.","family":"Shin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vandana","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej","family":"Adamowicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Lammens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Reunert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anika","family":"Witten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Schrapers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Matthijs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisy","family":"Rymen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Petit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Auma\u00eetre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elzbieta","family":"Czarnowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Piraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodor","family":"Podskarbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles A.","family":"Stanley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reuben","family":"Matalon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricie","family":"Burda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soraya","family":"Seyyedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Debus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Socha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanta","family":"Sykut-Cegielska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francjan","family":"van Spronsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"de Meirleir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Vajro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry","family":"DeClue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Ficicioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinao","family":"Wada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron A.","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Vanderschaeghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nico","family":"Callewaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Fingerhut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emile","family":"van Schaftingen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hudson H.","family":"Freeze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J.","family":"Lefeber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"150","reference":[{"key":"r001","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1974.tb03366.x"},{"key":"r002","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0901158"},{"key":"r003","doi-asserted-by":"publisher","DOI":"10.1172\/JCI2350"},{"key":"r004","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-2554-7_6"},{"key":"r005","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000196378.30165.26"},{"key":"r006","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2011.02.011"},{"key":"r007","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1017\/S1047951103000702","volume":"13","author":"Gehrmann J","year":"2003","journal-title":"Cardiol Young"},{"key":"r008","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds123"},{"key":"r009","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2007.08.015"},{"key":"r010","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.355677"},{"key":"r011","doi-asserted-by":"publisher","DOI":"10.1096\/fj.12-211656"},{"key":"r012","doi-asserted-by":"publisher","DOI":"10.1023\/A:1021107602535"},{"key":"r013","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwq044"},{"key":"r014","unstructured":"Shin YS. Galactose metabolites and disorders of galactose metabolism. In: Hommes FA, ed. Techniques in diagnostic human biochemical genetics. New York: Wiley-Liss, 1991:267-83."},{"key":"r015","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(74)90248-6"},{"key":"r016","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-005-8801-4"},{"key":"r017","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9525-7"},{"key":"r018","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.26.1.60"},{"key":"r019","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.4.602"},{"key":"r020","unstructured":"Illingworth B, Brown DH. Glycogen storage diseases, types III, IV, and VI. In: Whelan WJ, Cameron MP, eds. Control of glycogen metabolism (Ciba Foundation Symposium). London: J. & A. Churchill, 1964:336-53."},{"key":"r021","unstructured":"Illingworth Brown B, Brown DH. Phosphoglucomutase deficiency as a possible cause of glycogenosis. In: Dickens F, Randle PJ, Whelan WJ, eds. Carbohydrate metabolism and its disorders. New York: Academic Press, 1968:144-6."},{"key":"r022","first-page":"42","volume":"32","author":"Nakashima H","year":"1992","journal-title":"Rinsho Shinkeigaku"},{"key":"r023","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1000-2"},{"key":"r024","first-page":"241","volume":"2","author":"Huhtaniemi IT","year":"2000","journal-title":"Asian J Androl"},{"key":"r025","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2009.03531.x"},{"key":"r026","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvp119"},{"key":"r027","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.10.021"}],"container-title":["New England Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJMoa1206605","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T10:37:42Z","timestamp":1565174262000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.nejm.org\/doi\/10.1056\/NEJMoa1206605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,6]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,2,6]]}},"alternative-id":["10.1056\/NEJMoa1206605"],"URL":"https:\/\/doi.org\/10.1056\/nejmoa1206605","relation":{},"ISSN":["0028-4793","1533-4406"],"issn-type":[{"value":"0028-4793","type":"print"},{"value":"1533-4406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,6]]}}}