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Gerald F Cox

Showing results (31-40 of 75) with videos related to

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American Journal of Medical Genetics. Part A|September 14, 2007
Sibling phenotype concordance in classical infantile Pompe diseaseWendy E Smith, Jennifer A Sullivan-Saarela, Jennifer S Li, et al.
Molecular Genetics and Metabolism|October 5, 2020
How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendationsJeremy N Ruskin, Catherine Ortemann-Renon, Jerome Msihid, et al.
Orphanet Journal of Rare Diseases|April 17, 2020
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseasesNicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrateWei-Lien Chuang, Joshua Pacheco, Samantha Cooper, et al.
Plos One|August 23, 2011
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletionThierry Vilboux, Carla Ciccone, Jan K Blancato, et al.
American Journal of Human Genetics|May 7, 2005
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiencyBarbara Burwinkel, John W Scott, Christoph Bührer, et al.
Molecular Genetics and Metabolism Reports|January 26, 2017
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis IRoberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, et al.
Pediatric Nephrology (Berlin, Germany)|September 14, 2017
Efficacy and safety of sevelamer carbonate in hyperphosphatemic pediatric patients with chronic kidney diseaseSahar Fathallah-Shaykh, Dorota Drozdz, Joseph Flynn, et al.
Molecular Genetics and Metabolism|October 3, 2006
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 yearsMonica Sifuentes, Robin Doroshow, Richard Hoft, et al.
Molecular Genetics and Metabolism|June 13, 2024
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidosesJulie Kissell, Camille Rochmann, Pascal Minini, et al.
Pageof 8

Showing results (31-40 of 75) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|September 14, 2007
Sibling phenotype concordance in classical infantile Pompe diseaseWendy E Smith, Jennifer A Sullivan-Saarela, Jennifer S Li, et al.
Molecular Genetics and Metabolism|October 5, 2020
How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendationsJeremy N Ruskin, Catherine Ortemann-Renon, Jerome Msihid, et al.
Orphanet Journal of Rare Diseases|April 17, 2020
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseasesNicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrateWei-Lien Chuang, Joshua Pacheco, Samantha Cooper, et al.
Plos One|August 23, 2011
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletionThierry Vilboux, Carla Ciccone, Jan K Blancato, et al.
American Journal of Human Genetics|May 7, 2005
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiencyBarbara Burwinkel, John W Scott, Christoph Bührer, et al.
Molecular Genetics and Metabolism Reports|January 26, 2017
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis IRoberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, et al.
Pediatric Nephrology (Berlin, Germany)|September 14, 2017
Efficacy and safety of sevelamer carbonate in hyperphosphatemic pediatric patients with chronic kidney diseaseSahar Fathallah-Shaykh, Dorota Drozdz, Joseph Flynn, et al.
Molecular Genetics and Metabolism|October 3, 2006
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 yearsMonica Sifuentes, Robin Doroshow, Richard Hoft, et al.
Molecular Genetics and Metabolism|June 13, 2024
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidosesJulie Kissell, Camille Rochmann, Pascal Minini, et al.
Pageof 8