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http://hdl.handle.net/1942/34484
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DC Field | Value | Language |
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dc.contributor.author | Altassan, Ruqaiah | - |
dc.contributor.author | Péanne, Romain | - |
dc.contributor.author | Jaeken, Jaak | - |
dc.contributor.author | Barone, Rita | - |
dc.contributor.author | Bidet, Muad | - |
dc.contributor.author | Borgel, Delphine | - |
dc.contributor.author | Brasil, Sandra | - |
dc.contributor.author | CASSIMAN, David | - |
dc.contributor.author | Cechova, Anna | - |
dc.contributor.author | Coman, David | - |
dc.contributor.author | Corral, Javier | - |
dc.contributor.author | Correia, Joana | - |
dc.contributor.author | de la Morena‐Barrio, María Eugenia | - |
dc.contributor.author | de Lonlay, Pascale | - |
dc.contributor.author | Dos Reis, Vanessa | - |
dc.contributor.author | Ferreira, Carlos R | - |
dc.contributor.author | Fiumara, Agata | - |
dc.contributor.author | Francisco, Rita | - |
dc.contributor.author | Freeze, Hudson | - |
dc.contributor.author | Funke, Simone | - |
dc.contributor.author | Gardeitchik, Thatjana | - |
dc.contributor.author | Gert, Matthijs | - |
dc.contributor.author | Girad, Muriel | - |
dc.contributor.author | Giros, Marisa | - |
dc.contributor.author | Grünewald, Stephanie | - |
dc.contributor.author | Hernández‐Caselles, Trinidad | - |
dc.contributor.author | Honzik, Tomas | - |
dc.contributor.author | Hutter, Marlen | - |
dc.contributor.author | Krasnewich, Donna | - |
dc.contributor.author | Lam, Christina | - |
dc.contributor.author | Lee, Joy | - |
dc.contributor.author | Lefeber, Dirk | - |
dc.contributor.author | Marques‐da‐Silva, Dorinda | - |
dc.contributor.author | Martinez, Antonio F | - |
dc.contributor.author | Moravej, Hossein | - |
dc.contributor.author | Õunap, Katrin | - |
dc.contributor.author | Pascoal, Carlota | - |
dc.contributor.author | Pascreau, Tiffany | - |
dc.contributor.author | Patterson, Marc | - |
dc.contributor.author | Quelhas, Dulce | - |
dc.contributor.author | Raymond, Kimiyo | - |
dc.contributor.author | Sarkhail, Peymaneh | - |
dc.contributor.author | Schiff, Manuel | - |
dc.contributor.author | Seroczyńska, Małgorzata | - |
dc.contributor.author | Serrano, Mercedes | - |
dc.contributor.author | Seta, Nathalie | - |
dc.contributor.author | Sykut‐Cegielska, Jolanta | - |
dc.contributor.author | Thiel, Christian | - |
dc.contributor.author | Tort, Federic | - |
dc.contributor.author | Vals, Mari‐Anne | - |
dc.contributor.author | Videira, Paula | - |
dc.contributor.author | Witters, Peter | - |
dc.contributor.author | Zeevaert, Renate | - |
dc.contributor.author | Morava, Eva | - |
dc.date.accessioned | 2021-07-15T12:26:23Z | - |
dc.date.available | 2021-07-15T12:26:23Z | - |
dc.date.issued | 2019 | - |
dc.date.submitted | 2021-07-12T13:50:00Z | - |
dc.identifier.citation | Journal of inherited metabolic disease, 42 (1) , p. 5 -28 | - |
dc.identifier.uri | http://hdl.handle.net/1942/34484 | - |
dc.description.abstract | Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients. | - |
dc.language.iso | en | - |
dc.publisher | - | |
dc.title | International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up | - |
dc.type | Journal Contribution | - |
dc.identifier.epage | 28 | - |
dc.identifier.issue | 1 | - |
dc.identifier.spage | 5 | - |
dc.identifier.volume | 42 | - |
local.bibliographicCitation.jcat | A1 | - |
local.type.refereed | Refereed | - |
local.type.specified | Review | - |
dc.identifier.doi | 10.1002/jimd.12024 | - |
dc.identifier.isi | WOS:000458244600003 | - |
dc.contributor.orcid | Girard, Muriel/0000-0003-0050-1035; de la Morena-Barrio, | - |
dc.contributor.orcid | ME/0000-0001-7426-4947; Seta, Nathalie S/0000-0002-9240-8630; | - |
dc.contributor.orcid | Sykut-Cegielska, Jolanta/0000-0003-0762-3721; Videira, P | - |
dc.contributor.orcid | A/0000-0001-5987-2485; Brasil, Sandra/0000-0003-3977-7872; Borgel, | - |
dc.contributor.orcid | Delphine/0000-0002-8847-8935; Serrano, Mercedes/0000-0002-2056-2428; | - |
dc.contributor.orcid | /0000-0003-0460-5421; Corral, Javier/0000-0003-0288-1107; Cechova, | - |
dc.contributor.orcid | Anna/0000-0002-5802-6006; Matthijs, Gert/0000-0001-6710-1912; | - |
dc.contributor.orcid | Hernandez-Caselles, Trinidad/0000-0001-6727-8320; Tort, | - |
dc.contributor.orcid | Frederic/0000-0003-2733-1603; OUNAP, KATRIN/0000-0002-4594-6364; | - |
dc.contributor.orcid | Correia, Joana/0000-0002-0245-6840; Cassiman, David/0000-0002-6154-0970; | - |
dc.contributor.orcid | Pascoal, Carlota/0000-0001-5049-0579; Quelhas, Dulce/0000-0001-9989-9236 | - |
local.provider.type | wosris | - |
local.uhasselt.international | yes | - |
item.fullcitation | Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; CASSIMAN, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena‐Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Funke, Simone; Gardeitchik, Thatjana; Gert, Matthijs; Girad, Muriel; Giros, Marisa; Grünewald, Stephanie; Hernández‐Caselles, Trinidad; Honzik, Tomas; Hutter, Marlen; Krasnewich, Donna; Lam, Christina; Lee, Joy; Lefeber, Dirk; Marques‐da‐Silva, Dorinda; Martinez, Antonio F; Moravej, Hossein; Õunap, Katrin; Pascoal, Carlota; Pascreau, Tiffany; Patterson, Marc; Quelhas, Dulce; Raymond, Kimiyo; Sarkhail, Peymaneh; Schiff, Manuel; Seroczyńska, Małgorzata; Serrano, Mercedes; Seta, Nathalie; Sykut‐Cegielska, Jolanta; Thiel, Christian; Tort, Federic; Vals, Mari‐Anne; Videira, Paula; Witters, Peter; Zeevaert, Renate & Morava, Eva (2019) International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up. In: Journal of inherited metabolic disease, 42 (1) , p. 5 -28. | - |
item.fulltext | No Fulltext | - |
item.contributor | Altassan, Ruqaiah | - |
item.contributor | Péanne, Romain | - |
item.contributor | Jaeken, Jaak | - |
item.contributor | Barone, Rita | - |
item.contributor | Bidet, Muad | - |
item.contributor | Borgel, Delphine | - |
item.contributor | Brasil, Sandra | - |
item.contributor | CASSIMAN, David | - |
item.contributor | Cechova, Anna | - |
item.contributor | Coman, David | - |
item.contributor | Corral, Javier | - |
item.contributor | Correia, Joana | - |
item.contributor | de la Morena‐Barrio, María Eugenia | - |
item.contributor | de Lonlay, Pascale | - |
item.contributor | Dos Reis, Vanessa | - |
item.contributor | Ferreira, Carlos R | - |
item.contributor | Fiumara, Agata | - |
item.contributor | Francisco, Rita | - |
item.contributor | Freeze, Hudson | - |
item.contributor | Funke, Simone | - |
item.contributor | Gardeitchik, Thatjana | - |
item.contributor | Gert, Matthijs | - |
item.contributor | Girad, Muriel | - |
item.contributor | Giros, Marisa | - |
item.contributor | Grünewald, Stephanie | - |
item.contributor | Hernández‐Caselles, Trinidad | - |
item.contributor | Honzik, Tomas | - |
item.contributor | Hutter, Marlen | - |
item.contributor | Krasnewich, Donna | - |
item.contributor | Lam, Christina | - |
item.contributor | Lee, Joy | - |
item.contributor | Lefeber, Dirk | - |
item.contributor | Marques‐da‐Silva, Dorinda | - |
item.contributor | Martinez, Antonio F | - |
item.contributor | Moravej, Hossein | - |
item.contributor | Õunap, Katrin | - |
item.contributor | Pascoal, Carlota | - |
item.contributor | Pascreau, Tiffany | - |
item.contributor | Patterson, Marc | - |
item.contributor | Quelhas, Dulce | - |
item.contributor | Raymond, Kimiyo | - |
item.contributor | Sarkhail, Peymaneh | - |
item.contributor | Schiff, Manuel | - |
item.contributor | Seroczyńska, Małgorzata | - |
item.contributor | Serrano, Mercedes | - |
item.contributor | Seta, Nathalie | - |
item.contributor | Sykut‐Cegielska, Jolanta | - |
item.contributor | Thiel, Christian | - |
item.contributor | Tort, Federic | - |
item.contributor | Vals, Mari‐Anne | - |
item.contributor | Videira, Paula | - |
item.contributor | Witters, Peter | - |
item.contributor | Zeevaert, Renate | - |
item.contributor | Morava, Eva | - |
item.accessRights | Closed Access | - |
crisitem.journal.issn | 0141-8955 | - |
crisitem.journal.eissn | 1573-2665 | - |
Appears in Collections: | Research publications |
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