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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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M J Coll

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Pediatric Research|August 29, 2000

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinctC Busquets, B Merinero, E Christensen, et al.

Molecular Genetics and Metabolism|January 9, 2010

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case seriesM Pineda, M S Perez-Poyato, M O'Callaghan, et al.

Molecular Genetics and Metabolism|April 15, 2014

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsA Morrone, K L Tylee, M Al-Sayed, et al.

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Search research articles

Showing results (41-50 of 43) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 43 results.

Pediatric Research|August 29, 2000

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinctC Busquets, B Merinero, E Christensen, et al.

Molecular Genetics and Metabolism|January 9, 2010

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case seriesM Pineda, M S Perez-Poyato, M O'Callaghan, et al.

Molecular Genetics and Metabolism|April 15, 2014

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsA Morrone, K L Tylee, M Al-Sayed, et al.

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