1. An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1. (13th December 2021) Authors: Kalayinia, Samira; Talebi, Saeed; Miryounesi, Mohammad; Sarkhail, Peymaneh; Mahdieh, Nejat Other Names: Shahab Muhammad Academic Editor. Journal: International journal of endocrinology Issue: Volume 2021(2021) Page Start: 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. Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion). Issue 4 (3rd February 2022) Authors: Ghaffari, Saeed R.; Rafati, Maryam; Shadnoush, Mahdi; Pourbabaee, Shokooh; Aghighi, Mohammad; Mirab Samiee, Siamak; Kermanchi, Jamshid; Alaei, Mohammad R.; Salehpour, Shadab; Amirkashani, Davoud; Setoodeh, Aria; Sarkhail, Peymaneh; Badv, Reza Shervin; Aminzadeh, Majid; Shiva, Siamak; Eshraghi, Pe... Journal: Human mutation Issue: Volume 43:Issue 4(2022) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗