Search

Author/Creator Raiman, Julian

1. Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy. Issue 2 (3rd January 2022)

Authors:
Magrinelli, Francesca; Cali, Elisa; Braga, Vinícius Lopes; Yis, Uluç; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flávio Moura; Barsottini, Orlando Graziani Povoas; Taylor, Robert W.; Østergaard, Elsebet; Tamim, Abdullah; Schäferhoff, Karin; Sallum, Julia...
Journal:
Movement disorders clinical practice
Issue:
Volume 9:Issue 2(2022)
Page Start:
218
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinical Features of Lysosomal Acid Lipase Deficiency. Issue 6 (December 2015)

Authors:
Burton, Barbara K.; Deegan, Patrick B.; Enns, Gregory M.; Guardamagna, Ornella; Horslen, Simon; Hovingh, Gerard K.; Lobritto, Steve J.; Malinova, Vera; McLin, Valerie A.; Raiman, Julian; Di Rocco, Maja; Santra, Saikat; Sharma, Reena; Sykut-Cegielska, Jolanta; Whitley, Chester B.; Eckert, Stephen;...
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 61:Issue 6(2015)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Impact of long‐term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome. Issue 6 (23rd August 2016)

Authors:
Hendriksz, Christian J.; Berger, Kenneth I.; Parini, Rossella; AlSayed, Moeenaldeen D.; Raiman, Julian; Giugliani, Roberto; Mitchell, John J.; Burton, Barbara K.; Guelbert, Norberto; Stewart, Fiona; Hughes, Derralynn A.; Matousek, Robert; Jurecki, Elaina; Decker, Celeste; Harmatz, Paul R.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 6(2016)
Page Start:
839
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. International guidelines for the management and treatment of Morquio A syndrome. (24th October 2014)

Authors:
Hendriksz, Christian J.; Berger, Kenneth I.; Giugliani, Roberto; Harmatz, Paul; Kampmann, Christoph; Mackenzie, William G.; Raiman, Julian; Villarreal, Martha Solano; Savarirayan, Ravi
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 1(2015:Jan.)
Page Start:
11
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Outcomes of patients with cobalamin C deficiency: A single center experience. Issue 1 (8th November 2020)

Authors:
Bourque, Danielle K.; Mellin‐Sanchez, Lizbeth E.; Bullivant, Garrett; Cruz, Vivian; Feigenbaum, Anette; Hewson, Stacy; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Mercimek‐Andrews, Saadet
Journal:
JIMD reports
Issue:
Volume 57:Issue 1(2021)
Page Start:
102
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel. (8th April 2016)

Authors:
Tarnopolsky, Mark; Katzberg, Hans; Petrof, Basil J.; Sirrs, Sandra; Sarnat, Harvey B.; Myers, Kimberley; Dupré, Nicolas; Dodig, Dubravka; Genge, Angela; Venance, Shannon L.; Korngut, Lawrence; Raiman, Julian; Khan, Aneal
Journal:
Canadian journal of neurological sciences
Issue:
Volume 43:Number 4(2016)
Page Start:
472
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗