1. P.004 Endocrine and growth abnormalities in 4H leukodystrophy patients with a molecular diagnosis. (17th June 2016) Authors: Pelletier, F; Mirchi, A; Cayami, FK; Tran, LT; Ulrick, N; Polychronakos, C; Vanderver, A; Wolf, NI; Bernard, G Journal: Canadian journal of neurological sciences Issue: Volume 43(2016)Supplement 2 Page Start: S22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. (5th June 2019) Authors: Gauquelin, L; Cayami, FK; Sztriha, L; Yoon, G; Tran, LT; Guerrero, K; Hocke, F; van Spaendonk, RM; Fung, EL; D'Arrigo, S; Vasco, G; Thiffault, I; Niyazov, DM; Person, R; Lewis, KS; Wassmer, E; Prescott, T; Fallon, P; McEntagart, M; Rankin, J Journal: Canadian journal of neurological sciences Issue: Volume 46(2019)Supplement 1 Page Start: S34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. (June 2019) Authors: Gauquelin, L; Cayami, FK; Sztriha, L; Yoon, G; Tran, LT; Guerrero, K; Hocke, F; van Spaendonk, RM; Fung, EL; D'Arrigo, S; Vasco, G; Thiffault, I; Niyazov, DM; Person, R; Lewis, KS; Wassmer, E; Prescott, T; Fallon, P; McEntagart, M; Rankin, J Journal: Canadian journal of neurological sciences Issue: Volume 46(2019)Supplement 1 Page Start: S34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗