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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

2020Journal article Open access
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dc.contributor.authorAltassan, Ruqaiah
dc.contributor.authorRadenkovic, Silvia
dc.contributor.authorEdmondson, Andrew C.
dc.contributor.authorBarone, Rita
dc.contributor.authorBrasil, Sandra
dc.contributor.authorCechova, Anna
dc.contributor.authorComan, David
dc.contributor.authorDonoghue, Sarah
dc.contributor.authorFalkenstein, Kristina
dc.contributor.authorFerreira, Vanessa
dc.contributor.authorFerreira, Carlos
dc.contributor.authorFiumara, Agata
dc.contributor.authorFrancisco, Rita
dc.contributor.authorFreeze, Hudson
dc.contributor.authorGrunewald, Stephanie
dc.contributor.authorHonzik, Tomas
dc.contributor.authorJaeken, Jaak
dc.contributor.authorKrasnewich, Donna
dc.contributor.authorLam, Christina
dc.contributor.authorLee, Joy
dc.contributor.authorLefeber, Dirk
dc.contributor.authorMarques‐da‐Silva, Dorinda
dc.contributor.authorPascoal, Carlota
dc.contributor.authorQuelhas, D
dc.contributor.authorRaymond, Kimiyo M.
dc.contributor.authorRymen, Daisy
dc.contributor.authorSeroczynska, Malgorzata
dc.contributor.authorSerrano, Mercedes
dc.contributor.authorSykut‐Cegielska, Jolanta
dc.contributor.authorThiel, Christian
dc.contributor.authorTort, Frederic
dc.contributor.authorVals, Mari‐Anne
dc.contributor.authorVideira, Paula
dc.contributor.authorVoermans, Nicol
dc.contributor.authorWitters, Peter
dc.contributor.authorMorava, Eva
dc.date.accessioned2023-10-17T10:50:35Z
dc.date.available2023-10-17T10:50:35Z
dc.date.issued2020
dc.description.abstractPhosphoglucomutase 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-CDG. PGM1-CDG 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-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.pt_PT
dc.description.versioninfo:eu-repo/semantics/acceptedVersionpt_PT
dc.identifier.citationAltassan R, Radenkovic S, Edmondson AC, et al. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021;44(1):148-163. doi:10.1002/jimd.12286pt_PT
dc.identifier.doi10.1002/jimd.12286pt_PT
dc.identifier.issn0141-8955
dc.identifier.issn1573-2665
dc.identifier.urihttp://hdl.handle.net/10400.16/2810
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1002/jimd.12286pt_PT
dc.subjectd-galactosept_PT
dc.subjectPGM1-CDGpt_PT
dc.subjectcongenital disorder of glycosylationpt_PT
dc.subjectmanagement guidelinespt_PT
dc.subjectphosphoglucomutase 1 deficiencypt_PT
dc.titleInternational consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and managementpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.endPage163pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage148pt_PT
oaire.citation.titleJournal of Inherited Metabolic Diseasept_PT
oaire.citation.volume44pt_PT
person.familyNameQuelhas
person.givenNameDulce
person.identifier.ciencia-id921C-8052-6FC5
person.identifier.orcid0000-0001-9989-9236
person.identifier.scopus-author-id6507796178
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationa7117e6e-c216-451e-9f9a-b2cd8dab81e4
relation.isAuthorOfPublication.latestForDiscoverya7117e6e-c216-451e-9f9a-b2cd8dab81e4

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