1. 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) ↗
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. Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein. Issue 7 (24th April 2017) Authors: Díez, H.; Cortès‐Saladelafont, E.; Ormazábal, A.; Marmiese, A. Fernández; Armstrong, J.; Matalonga, Leslie; Bravo, Miren; Briones, Paz; Emperador, Sonia; Montoya, Julio; Artuch, Rafael; Giros, Marisa; Garcia‐Cazorla, Àngels Journal: Movement disorders Issue: Volume 32:Issue 7(2017) Page Start: 1108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗