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Wendy E Smith

Showing results (11-20 of 32) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2025
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trialCan Ficicioglu, Janet A Thomas, Jaya Ganesh, et al.
Neuropediatrics|June 22, 2019
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici SyndromeMegan S Kane, Jia Zhao, Julie Muskett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 4, 2014
Phenylalanine hydroxylase deficiency: diagnosis and management guidelineJerry Vockley, Hans C Andersson, Kevin M Antshel, et al.
Molecular Genetics and Metabolism|September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2yearsSusan A Berry, Nicola Longo, George A Diaz, et al.
Molecular Genetics and Metabolism|June 18, 2020
Laboratory monitoring of patients with hereditary tyrosinemia type IMatthew J Schultz, Brian C Netzel, Rani H Singh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, 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.
Pediatric Research|May 9, 2003
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningDwight D Koeberl, Sarah P Young, Niels S Gregersen, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2025
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trialCan Ficicioglu, Janet A Thomas, Jaya Ganesh, et al.
Neuropediatrics|June 22, 2019
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici SyndromeMegan S Kane, Jia Zhao, Julie Muskett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 4, 2014
Phenylalanine hydroxylase deficiency: diagnosis and management guidelineJerry Vockley, Hans C Andersson, Kevin M Antshel, et al.
Molecular Genetics and Metabolism|September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2yearsSusan A Berry, Nicola Longo, George A Diaz, et al.
Molecular Genetics and Metabolism|June 18, 2020
Laboratory monitoring of patients with hereditary tyrosinemia type IMatthew J Schultz, Brian C Netzel, Rani H Singh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, 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.
Pediatric Research|May 9, 2003
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningDwight D Koeberl, Sarah P Young, Niels S Gregersen, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Pageof 4