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Susan A Berry

Showing results (51-60 of 74) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2013
Insurance coverage of medical foods for treatment of inherited metabolic disordersSusan A Berry, Mary Kay Kenney, Katharine B Harris, et al.
The Journal of Pediatrics|January 18, 2013
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrateWendy Smith, George A Diaz, Uta Lichter-Konecki, et al.
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
Journal of Inherited Metabolic Disease|October 9, 2021
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatmentKimberly A Kripps, Leighann Sremba, Austin A Larson, et al.
American Journal of Human Genetics|October 16, 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screeningRegina Ensenauer, Jerry Vockley, Jan-Marie Willard, et al.
Pediatrics|January 8, 2014
Parental permission for pilot newborn screening research: guidelines from the NBSTRNJeffrey R Botkin, Michelle Huckaby Lewis, Michael S Watson, et al.
American Journal of Human Genetics|January 6, 2018
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective FucosylationBobby G Ng, Gege Xu, Nandini Chandy, et al.
Molecular Genetics and Metabolism|September 16, 2018
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disordersSusan A Berry, Jerry Vockley, Alexander A Vinks, et al.
Molecular Genetics and Metabolism|January 3, 2021
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disordersNicola Longo, George A Diaz, Uta Lichter-Konecki, et al.
European Journal of Human Genetics : EJHG|February 22, 2018
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9Fanny Kortüm, Rami Abou Jamra, Malik Alawi, et al.
Pageof 8

Showing results (51-60 of 74) with videos related to

Sort By:
Pageof 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2013
Insurance coverage of medical foods for treatment of inherited metabolic disordersSusan A Berry, Mary Kay Kenney, Katharine B Harris, et al.
The Journal of Pediatrics|January 18, 2013
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrateWendy Smith, George A Diaz, Uta Lichter-Konecki, et al.
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
Journal of Inherited Metabolic Disease|October 9, 2021
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatmentKimberly A Kripps, Leighann Sremba, Austin A Larson, et al.
American Journal of Human Genetics|October 16, 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screeningRegina Ensenauer, Jerry Vockley, Jan-Marie Willard, et al.
Pediatrics|January 8, 2014
Parental permission for pilot newborn screening research: guidelines from the NBSTRNJeffrey R Botkin, Michelle Huckaby Lewis, Michael S Watson, et al.
American Journal of Human Genetics|January 6, 2018
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective FucosylationBobby G Ng, Gege Xu, Nandini Chandy, et al.
Molecular Genetics and Metabolism|September 16, 2018
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disordersSusan A Berry, Jerry Vockley, Alexander A Vinks, et al.
Molecular Genetics and Metabolism|January 3, 2021
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disordersNicola Longo, George A Diaz, Uta Lichter-Konecki, et al.
European Journal of Human Genetics : EJHG|February 22, 2018
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9Fanny Kortüm, Rami Abou Jamra, Malik Alawi, et al.
Pageof 8