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Gregory M Enns

Showing results (41-50 of 135) with videos related to

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Molecular Genetics and Metabolism Reports|July 19, 2021
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a <i>de novo</i> pathogenic variant in <i>PHKA2</i>J Andres Morales, Christina G Tise, Amrita Narang, et al.
JIMD Reports|September 10, 2019
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitizationMichelle F Huffaker, Anne Y Liu, Gregory M Enns, et al.
The New England Journal of Medicine|June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disordersGregory M Enns, Susan A Berry, Gerard T Berry, et al.
Eclinicalmedicine|January 31, 2024
Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialRossana Sanchez Russo, Serena Gasperini, Gillian Bubb, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|May 11, 2013
A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole bloodTereza Moore, Anthony Le, Anna-Kaisa Niemi, et al.
Molecular Genetics and Metabolism|March 1, 2015
Long-term safety and efficacy of sapropterin: the PKUDOS registry experienceNicola Longo, Georgianne L Arnold, Gabriella Pridjian, et al.
American Journal of Medical Genetics. Part A|June 9, 2006
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4Omar A Abdul-Rahman, Trang H La, Andrea Kwan, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 19, 2009
Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemiaKondala R Atkuri, Tina M Cowan, Tony Kwan, et al.
Journal of Pediatric Gastroenterology and Nutrition|June 9, 2009
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failureJoseph T C Shieh, William E Berquist, Qing Zhang, et al.
American Journal of Medical Genetics. Part A|October 14, 2003
Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortionMargaret P Adam, Melanie A Manning, Anita E Beck, et al.
Pageof 14

Showing results (41-50 of 135) with videos related to

Sort By:
Pageof 14
Molecular Genetics and Metabolism Reports|July 19, 2021
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a <i>de novo</i> pathogenic variant in <i>PHKA2</i>J Andres Morales, Christina G Tise, Amrita Narang, et al.
JIMD Reports|September 10, 2019
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitizationMichelle F Huffaker, Anne Y Liu, Gregory M Enns, et al.
The New England Journal of Medicine|June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disordersGregory M Enns, Susan A Berry, Gerard T Berry, et al.
Eclinicalmedicine|January 31, 2024
Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialRossana Sanchez Russo, Serena Gasperini, Gillian Bubb, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|May 11, 2013
A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole bloodTereza Moore, Anthony Le, Anna-Kaisa Niemi, et al.
Molecular Genetics and Metabolism|March 1, 2015
Long-term safety and efficacy of sapropterin: the PKUDOS registry experienceNicola Longo, Georgianne L Arnold, Gabriella Pridjian, et al.
American Journal of Medical Genetics. Part A|June 9, 2006
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4Omar A Abdul-Rahman, Trang H La, Andrea Kwan, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 19, 2009
Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemiaKondala R Atkuri, Tina M Cowan, Tony Kwan, et al.
Journal of Pediatric Gastroenterology and Nutrition|June 9, 2009
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failureJoseph T C Shieh, William E Berquist, Qing Zhang, et al.
American Journal of Medical Genetics. Part A|October 14, 2003
Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortionMargaret P Adam, Melanie A Manning, Anita E Beck, et al.
Pageof 14