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Robin Lachmann

Showing results (51-60 of 55) with videos related to

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Journal of Inherited Metabolic Disease|December 4, 2023
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaSonam Gurung, Saketh Karamched, Dany Perocheau, et al.
Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.
Journal of Inherited Metabolic Disease|June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.
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Showing results (51-60 of 55) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 55 results.
Journal of Inherited Metabolic Disease|December 4, 2023
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaSonam Gurung, Saketh Karamched, Dany Perocheau, et al.
Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.
Journal of Inherited Metabolic Disease|June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.
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