{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:38:03Z","timestamp":1791326283327,"version":"4.3.1"},"reference-count":55,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,9,15]],"date-time":"2020-09-15T00:00:00Z","timestamp":1600128000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1U54NS115198\u201001"],"award-info":[{"award-number":["1U54NS115198\u201001"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010648","name":"Universitaire Ziekenhuizen Leuven, KU Leuven","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010648","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,1]]},"abstract":"Abstract<\/jats:title>\n \n Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1\u2010CDG. PGM1\u2010CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life\u2010threatening cardiomyopathy. Unlike most other CDG, PGM1\u2010CDG has an effective treatment option,\n d<\/jats:sc>\n \u2010galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1\u2010CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow\u2010up, and management guidelines for PGM1\u2010CDG. These guidelines are based on the best available evidence\u2010based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1\u2010CDG patients.\n <\/jats:p>","DOI":"10.1002\/jimd.12286","type":"journal-article","created":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T10:44:40Z","timestamp":1595069080000},"page":"148-163","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["International consensus guidelines for phosphoglucomutase 1 deficiency (\n PGM1\u2010CDG<\/scp>\n ): Diagnosis, follow\u2010up, and management"],"prefix":"10.1002","volume":"44","author":[{"given":"Ruqaiah","family":"Altassan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"College of Medicine, Alfaisal University Riyadh Saudi 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