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Robin H Lachmann

Showing results (11-20 of 53) with videos related to

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Molecular Genetics and Metabolism|December 17, 2008
A new surrogate marker for CNS pathology in Niemann-Pick disease type C?Frances M Platt, Robin H Lachmann
Journal of Inherited Metabolic Disease|April 4, 2022
Lost in translation-Challenges in drug development for inherited metabolic diseasesRobin H Lachmann, Marc C Patterson, Sandra Sirrs
Ophthalmology|April 5, 2011
Latency vs saccadic parameters in lysosomal trialsJonathan C P Roos, Robin H Lachmann, Roger H Carpenter, et al.
Journal of Inherited Metabolic Disease|August 17, 2013
Cognitive dysfunction and depression in Fabry disease: a systematic reviewFay E Bolsover, Elaine Murphy, Lisa Cipolotti, et al.
The Biochemical Journal|September 18, 2007
Glucosylated free oligosaccharides are biomarkers of endoplasmic- reticulum alpha-glucosidase inhibitionDominic S Alonzi, David C A Neville, Robin H Lachmann, et al.
Journal of Inherited Metabolic Disease|February 4, 2011
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction timeCharlotte Dawson, Elaine Murphy, Charlé Maritz, et al.
Journal of Inherited Metabolic Disease|September 28, 2011
Pregnancy and its management in women with GSD type III - a single centre experienceRadha Ramachandran, Yehani Wedatilake, Caroline Coats, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic reviewAlessandro P Burlina, Robin H Lachmann, Renzo Manara, et al.
Orphanet Journal of Rare Diseases|April 25, 2023
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adultsRobin H Lachmann, George A Diaz, Melissa P Wasserstein, et al.
The New England Journal of Medicine|March 28, 2008
An adult with type 2 citrullinemia presenting in EuropeGiuseppe Fiermonte, Derek Soon, Abhijit Chaudhuri, et al.
Pageof 6

Showing results (11-20 of 53) with videos related to

Sort By:
Pageof 6
Molecular Genetics and Metabolism|December 17, 2008
A new surrogate marker for CNS pathology in Niemann-Pick disease type C?Frances M Platt, Robin H Lachmann
Journal of Inherited Metabolic Disease|April 4, 2022
Lost in translation-Challenges in drug development for inherited metabolic diseasesRobin H Lachmann, Marc C Patterson, Sandra Sirrs
Ophthalmology|April 5, 2011
Latency vs saccadic parameters in lysosomal trialsJonathan C P Roos, Robin H Lachmann, Roger H Carpenter, et al.
Journal of Inherited Metabolic Disease|August 17, 2013
Cognitive dysfunction and depression in Fabry disease: a systematic reviewFay E Bolsover, Elaine Murphy, Lisa Cipolotti, et al.
The Biochemical Journal|September 18, 2007
Glucosylated free oligosaccharides are biomarkers of endoplasmic- reticulum alpha-glucosidase inhibitionDominic S Alonzi, David C A Neville, Robin H Lachmann, et al.
Journal of Inherited Metabolic Disease|February 4, 2011
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction timeCharlotte Dawson, Elaine Murphy, Charlé Maritz, et al.
Journal of Inherited Metabolic Disease|September 28, 2011
Pregnancy and its management in women with GSD type III - a single centre experienceRadha Ramachandran, Yehani Wedatilake, Caroline Coats, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic reviewAlessandro P Burlina, Robin H Lachmann, Renzo Manara, et al.
Orphanet Journal of Rare Diseases|April 25, 2023
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adultsRobin H Lachmann, George A Diaz, Melissa P Wasserstein, et al.
The New England Journal of Medicine|March 28, 2008
An adult with type 2 citrullinemia presenting in EuropeGiuseppe Fiermonte, Derek Soon, Abhijit Chaudhuri, et al.
Pageof 6