International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2021 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Outros |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10362/114760 |
Resumo: | P. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (E. M., K. R., C. F., H. F., C. L., and A. E.) |
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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)Diagnosis, follow-up, and managementcongenital disorder of glycosylationd-galactosemanagement guidelinesPGM1-CDGphosphoglucomutase 1 deficiencyGeneticsGenetics(clinical)P. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (E. M., K. R., C. F., H. F., C. L., and A. E.)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-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.UCIBIO - Applied Molecular Biosciences UnitDCV - Departamento de Ciências da VidaRUNAltassan, RuqaiahRadenkovic, SilviaEdmondson, Andrew C.Barone, RitaBrasil, SandraCechova, AnnaComan, DavidDonoghue, SarahFalkenstein, KristinaFerreira, VanessaFiumara, AgataFrancisco, RitaFreeze, HudsonGrunewald, StephanieHonzik, TomasJaeken, JaakKrasnewich, DonnaLam, ChristinaLee, JoyLefeber, DirkMarques-da-Silva, DorindaPascoal, CarlotaQuelhas, DulceRaymond, Kimiyo M.Rymen, DaisySeroczynska, MalgorzataSerrano, MercedesSykut-Cegielska, JolantaThiel, ChristianTort, FredericVals, Mari AnneVideira, PaulaVoermans, NicolWitters, PeterMorava, Eva2021-03-30T22:20:31Z2021-01-012021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/otherapplication/pdfhttp://hdl.handle.net/10362/114760eng0141-8955PURE: 20017548https://doi.org/10.1002/jimd.12286info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-05-22T17:51:34Zoai:run.unl.pt:10362/114760Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-05-22T17:51:34Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) Diagnosis, follow-up, and management |
| title |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) |
| spellingShingle |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) Altassan, Ruqaiah congenital disorder of glycosylation d-galactose management guidelines PGM1-CDG phosphoglucomutase 1 deficiency Genetics Genetics(clinical) |
| title_short |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) |
| title_full |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) |
| title_fullStr |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) |
| title_full_unstemmed |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) |
| title_sort |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) |
| author |
Altassan, Ruqaiah |
| author_facet |
Altassan, Ruqaiah Radenkovic, Silvia Edmondson, Andrew C. Barone, Rita Brasil, Sandra Cechova, Anna Coman, David Donoghue, Sarah Falkenstein, Kristina Ferreira, Vanessa Fiumara, Agata Francisco, Rita Freeze, Hudson Grunewald, Stephanie Honzik, Tomas Jaeken, Jaak Krasnewich, Donna Lam, Christina Lee, Joy Lefeber, Dirk Marques-da-Silva, Dorinda Pascoal, Carlota Quelhas, Dulce Raymond, Kimiyo M. Rymen, Daisy Seroczynska, Malgorzata Serrano, Mercedes Sykut-Cegielska, Jolanta Thiel, Christian Tort, Frederic Vals, Mari Anne Videira, Paula Voermans, Nicol Witters, Peter Morava, Eva |
| author_role |
author |
| author2 |
Radenkovic, Silvia Edmondson, Andrew C. Barone, Rita Brasil, Sandra Cechova, Anna Coman, David Donoghue, Sarah Falkenstein, Kristina Ferreira, Vanessa Fiumara, Agata Francisco, Rita Freeze, Hudson Grunewald, Stephanie Honzik, Tomas Jaeken, Jaak Krasnewich, Donna Lam, Christina Lee, Joy Lefeber, Dirk Marques-da-Silva, Dorinda Pascoal, Carlota Quelhas, Dulce Raymond, Kimiyo M. Rymen, Daisy Seroczynska, Malgorzata Serrano, Mercedes Sykut-Cegielska, Jolanta Thiel, Christian Tort, Frederic Vals, Mari Anne Videira, Paula Voermans, Nicol Witters, Peter Morava, Eva |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
UCIBIO - Applied Molecular Biosciences Unit DCV - Departamento de Ciências da Vida RUN |
| dc.contributor.author.fl_str_mv |
Altassan, Ruqaiah Radenkovic, Silvia Edmondson, Andrew C. Barone, Rita Brasil, Sandra Cechova, Anna Coman, David Donoghue, Sarah Falkenstein, Kristina Ferreira, Vanessa Fiumara, Agata Francisco, Rita Freeze, Hudson Grunewald, Stephanie Honzik, Tomas Jaeken, Jaak Krasnewich, Donna Lam, Christina Lee, Joy Lefeber, Dirk Marques-da-Silva, Dorinda Pascoal, Carlota Quelhas, Dulce Raymond, Kimiyo M. Rymen, Daisy Seroczynska, Malgorzata Serrano, Mercedes Sykut-Cegielska, Jolanta Thiel, Christian Tort, Frederic Vals, Mari Anne Videira, Paula Voermans, Nicol Witters, Peter Morava, Eva |
| dc.subject.por.fl_str_mv |
congenital disorder of glycosylation d-galactose management guidelines PGM1-CDG phosphoglucomutase 1 deficiency Genetics Genetics(clinical) |
| topic |
congenital disorder of glycosylation d-galactose management guidelines PGM1-CDG phosphoglucomutase 1 deficiency Genetics Genetics(clinical) |
| description |
P. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (E. M., K. R., C. F., H. F., C. L., and A. E.) |
| publishDate |
2021 |
| dc.date.none.fl_str_mv |
2021-03-30T22:20:31Z 2021-01-01 2021-01-01T00:00:00Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/other |
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other |
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publishedVersion |
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http://hdl.handle.net/10362/114760 |
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http://hdl.handle.net/10362/114760 |
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eng |
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eng |
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0141-8955 PURE: 20017548 https://doi.org/10.1002/jimd.12286 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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