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R H Lachmann

Showing results (21-30 of 28) with videos related to

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Journal of Inherited Metabolic Disease|June 8, 2014
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort studyL J Anderson, W Henley, K M Wyatt, et al.
Molecular Genetics and Metabolism|October 22, 2008
A novel HEXB mutation and its structural effects in juvenile Sandhoff diseaseS Z Wang, M B Cachón-González, P E Stein, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 21, 2013
A practical approach to diagnosing adult onset leukodystrophiesR M Ahmed, E Murphy, I Davagnanam, et al.
Brain : a Journal of Neurology|November 3, 2020
White matter integrity correlates with cognition and disease severity in Fabry diseaseLeonardo Ulivi, Baris Kanber, Ferran Prados, et al.
Journal of Inherited Metabolic Disease|October 27, 2004
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher diseaseD Elstein, C Hollak, J M F G Aerts, et al.
European Journal of Neurology|May 7, 2017
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experienceA T van der Ploeg, M E Kruijshaar, A Toscano, et al.
Journal of Inherited Metabolic Disease|June 19, 2001
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapyF M Platt, M Jeyakumar, U Andersson, et al.
Orphanet Journal of Rare Diseases|May 19, 2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patientsC I van Capelle, J C van der Meijden, J M P van den Hout, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Journal of Inherited Metabolic Disease|June 8, 2014
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort studyL J Anderson, W Henley, K M Wyatt, et al.
Molecular Genetics and Metabolism|October 22, 2008
A novel HEXB mutation and its structural effects in juvenile Sandhoff diseaseS Z Wang, M B Cachón-González, P E Stein, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 21, 2013
A practical approach to diagnosing adult onset leukodystrophiesR M Ahmed, E Murphy, I Davagnanam, et al.
Brain : a Journal of Neurology|November 3, 2020
White matter integrity correlates with cognition and disease severity in Fabry diseaseLeonardo Ulivi, Baris Kanber, Ferran Prados, et al.
Journal of Inherited Metabolic Disease|October 27, 2004
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher diseaseD Elstein, C Hollak, J M F G Aerts, et al.
European Journal of Neurology|May 7, 2017
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experienceA T van der Ploeg, M E Kruijshaar, A Toscano, et al.
Journal of Inherited Metabolic Disease|June 19, 2001
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapyF M Platt, M Jeyakumar, U Andersson, et al.
Orphanet Journal of Rare Diseases|May 19, 2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patientsC I van Capelle, J C van der Meijden, J M P van den Hout, et al.
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