1. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Issue 9 (24th June 2020) Authors: Elsea, Sarah H.; Solyom, Alexander; Martin, Kirt; Harmatz, Paul; Mitchell, John; Lampe, Christina; Grant, Christina; Selim, Laila; Mungan, Neslihan Oneli; Guelbert, Norberto; Magnusson, Bo; Sundberg, Erik; Puri, Ratna; Kapoor, Seema; Arslan, Nur; DiRocco, Maja; Zaki, Maha; Ozen, Seza; Mahmoud, Im... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1469 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype. Issue 6 (2nd September 2020) Authors: Mahmoud, Iman G.; Elmonem, Mohamed A.; Zaki, Maha S.; Ramadan, Areef; Al‐Menabawy, Nihal M.; El‐Gamal, Aya; Mansour, Lobna; Issa, Mahmoud Y.; Abdel‐Hamid, Mohamed S.; Abdel‐Hady, Sawsan; Khalifa, Iman; Ibrahim, Ahmed; Solyom, Alexander; Rolfs, Arndt; Selim, Laila Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 598 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile. Issue 12 (3rd November 2022) Authors: Lee, Michelle M.; McDowell, Graeme S. V.; De Vivo, Darryl C.; Friedman, Daniel; Berkovic, Samuel F.; Spanou, Maria; Dinopoulos, Argirios; Grand, Katheryn; Sanchez‐Lara, Pedro A.; Allen‐Sharpley, Michelle; Warman‐Chardon, Jodi; Solyom, Alexander; Levade, Thierry; Schuchman, Edward H.; Bennett, Ste... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 12(2022) Page Start: 1941 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study. Issue 6 (2nd September 2016) Authors: Hennermann, Julia B.; Gökce, Seyfullah; Solyom, Alexander; Mengel, Eugen; Schuchman, Edward H.; Simonaro, Calogera M. Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 6(2016) Page Start: 831 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗