المؤلفون: Tomas Honzik, Antonio F. Martinez, Federic Tort, David Cassiman, Joana Correia, Christian Thiel, Simone Funke, Mari Anne Vals, Carlota Pascoal, Hossein Moravej, Katrin Õunap, Rita Barone, Marlen Hutter, Małgorzata Seroczyńska, Hudson H. Freeze, Ruqaiah Altassan, María Eugenia de la Morena-Barrio, Anna Cechova, Kimiyo Raymond, Dulce Quelhas, Carlos Ferreira, Matthijs Gert, Delphine Borgel, Trinidad Hernández-Caselles, David Coman, Romain Péanne, Paula A. Videira, Renate Zeevaert, Dorinda Marques-da-Silva, Stephanie Grunewald, Nathalie Seta, Javier Corral, Muad Bidet, Rita Francisco, Mercedes Serrano, Jaak Jaeken, Peter Witters, Manuel Schiff, Thatjana Gardeitchik, Joy Lee, Peymaneh Sarkhail, Christina Lam, Agata Fiumara, Pascale de Lonlay, Tiffany Pascreau, Sandra Brasil, Muriel Girad, Eva Morava, Dirk Lefeber, Marc C. Patterson, Marisa Giros, Donna M. Krasnewich, Jolanta Sykut-Cegielska, Vanessa dos Reis

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease, 42, 5-28
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Inherited Metabolic Disease, 42, 1, pp. 5-28

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Genetics, Genetics (clinical), business.industry, MEDLINE, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Guideline, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital Disorders of Glycosylation, Diagnosis treatment, Multidisciplinary approach, Phosphotransferases (Phosphomutases), medicine, Humans, Presentation (obstetrics), Intensive care medicine, business, Clinical evaluation, Phosphomannomutase, Congenital disorder, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae285ac9e00a9e5f1fe580c5329ea2ab
http://hdl.handle.net/20.500.11769/360623

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

مصطلحات موضوعية: chemistry.chemical_compound, Glycosylation, chemistry, Diagnosis treatment, business.industry, Genetics, Medicine, Inherited metabolic disease, business, Bioinformatics, Genetics (clinical), Phosphomannomutase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f267db3dedcc3beb7e0dc6eaa122aed
https://doi.org/10.1002/jimd.12082