{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:37Z","timestamp":1790516617201,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T00:00:00Z","timestamp":1603065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a patient diagnosed with PGM1\u2010CDG at 11\u2009years of age after two biallelic likely pathogenic variants in <jats:italic>PGM1<\/jats:italic> were found on research genomic sequencing. To our knowledge, he is the first patient with PGM1\u2010CDG to be reported with a restrictive cardiomyopathy. Other clinical manifestations included cleft palate, asymptomatic elevated transaminases, intellectual disability and myopathy resulting in exercise intolerance. He was trialed on oral galactose therapy in increasing doses for 18\u2009weeks to assess if there was any biochemical and clinical benefit. His galactose was continued for a further 9\u2009months beyond the initial galactose treatment period due to improvements in exercise tolerance and myopathy. Treatment with galactose demonstrated an improvement in liver function and myopathy with improved exercise tolerance. Treatment with galactose for 15\u2009months did not change heart function and exercise stress test results were stable.<\/jats:p>","DOI":"10.1002\/jmd2.12177","type":"journal-article","created":{"date-parts":[[2020,10,20]],"date-time":"2020-10-20T02:56:51Z","timestamp":1603162611000},"page":"29-37","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Galactose treatment of a <scp>PGM1<\/scp> patient presenting with restrictive cardiomyopathy"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1189-5060","authenticated-orcid":false,"given":"Sarah E.","family":"Donoghue","sequence":"first","affiliation":[{"name":"Department of Metabolic Medicine Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"White","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiong Yang","family":"Tan","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remi","family":"Kowalski","sequence":"additional","affiliation":[{"name":"Department of Cardiology Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Pediatrics University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Yaplito\u2010Lee","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,19]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0901158"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.06.002"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.26.1.60"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds123"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206605"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.04.021"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.41"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.10.006"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.01.014"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37294"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.07.010"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fsigen.2019.06.012"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/17843286.2016.1142043"},{"issue":"2","key":"e_1_2_11_16_1","first-page":"137","article-title":"Glycogen storage disease\u2010like phenotype with central nervous system involvement in a PGM1\u2010CDG patient","volume":"35","author":"Ondruskova N","year":"2014","journal-title":"Neuro Endocrol Lett"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.08.008"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12177","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12177","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12177","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T19:44:40Z","timestamp":1693770280000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,19]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/jmd2.12177"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12177","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,19]]},"assertion":[{"value":"2020-08-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}