1. Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578–584. Issue 6 (June 2014) Authors: Funke, Simone; Gardeitchik, Thatjana; Kouwenberg, Dorus; Mohamed, Miski; Wortmann, Saskia; Korsch, Eckhard; Adamovicz, Maciej; Al‐Gazali, Lihadh; Wevers, Ron A.; Horvath, Adrien; Lefeber, Dirk J.; Morava, Eva Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up. Issue 1 (11th February 2019) Authors: 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... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up. Issue 1 (11th February 2019) Authors: 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... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Perinatal and early infantile symptoms in congenital disorders of glycosylation1. Issue 3 (7th February 2013) Authors: Funke, Simone; Gardeitchik, Thatjana; Kouwenberg, Dorus; Mohamed, Miski; Wortmann, Saskia B.; Korsch, Eckhard; Adamowicz, Maciej; Al‐Gazali, Lihadh; Wevers, Ron A.; Horvath, Adrienne; Lefeber, Dirk J.; Morava, Éva Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗