التفاصيل البيبلوغرافية
| العنوان: |
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up |
| المؤلفون: |
Romain Péanne, David Cassiman, Dulce Quelhas, Trinidad Hernández-Caselles, Vanessa dos Reis Ferreira, Javier Corral, Anna Cechova, Stephanie Grunewald, Dirk Lefeber, Małgorzata Seroczyńska, Marisa Giros, Matthijs Gert, Rita Barone, Joy Lee, Thatjana Gardeitchik, Christina Lam, Hossein Moravej, Donna M. Krasnewich, David Coman, Peymaneh Sarkhail, Jolanta Sykut-Cegielska, Tomas Honzik, Renate Zeevaert, Agata Fiumara, Katrin Õunap, Tiffany Pascreau, Antonio F. Martinez, Joana Correia, Simone Funke, Muad Bidet, Marlen Hutter, Muriel Girad, Eva Morava, Marc C. Patterson, Dorinda Marques-da-Silva, Ruqaiah Altassan, Carlota Pascoal, Nathalie Seta, Carlos Ferreira, Manuel Schiff, Jaak Jaeken, Pascale de Lonlay, Delphine Borgel, Mari-Anne Vals, Peter Witters, Mercedes Serrano, Paula A. Videira, María Eugenia de la Morena-Barrio, Rita Francisco, Kimiyo Raymond, Hudson H. Freeze, Federic Tort, Christian Thiel, Sandra Brasil |
| المصدر: |
Journal of Inherited Metabolic Disease. 42:577-577 |
| بيانات النشر: |
Wiley, 2019. |
| سنة النشر: |
2019 |
| مصطلحات موضوعية: |
chemistry.chemical_compound, Glycosylation, chemistry, Diagnosis treatment, business.industry, Genetics, Medicine, Inherited metabolic disease, business, Bioinformatics, Genetics (clinical), Phosphomannomutase |
| تدمد: |
0141-8955 |
| DOI: |
10.1002/jimd.12082 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_________::5f267db3dedcc3beb7e0dc6eaa122aed
https://doi.org/10.1002/jimd.12082 |
| Rights: |
OPEN |
| رقم الانضمام: |
edsair.doi...........5f267db3dedcc3beb7e0dc6eaa122aed |
| قاعدة البيانات: |
OpenAIRE |