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J Lawrence Merritt

Showing results (21-30 of 42) with videos related to

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Molecular Genetics and Metabolism|February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screeningJ Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.
Pediatrics|July 28, 2019
A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained EventJ Lawrence Merritt, Ricardo A Quinonez, Joshua L Bonkowsky, et al.
Journal of Inherited Metabolic Disease|December 16, 2020
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiencyGeorge A Diaz, Andreas Schulze, Markey C McNutt, et al.
Orphanet Journal of Rare Diseases|May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programRoberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Pediatrics|June 1, 2016
Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive SummaryJoel S Tieder, Joshua L Bonkowsky, Ruth A Etzel, et al.
Pediatrics|June 1, 2016
Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk InfantsJoel S Tieder, Joshua L Bonkowsky, Ruth A Etzel, et al.
Molecular Genetics and Metabolism|July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patientsGeorge A Diaz, Andreas Schulze, Nicola Longo, et al.
Orphanet Journal of Rare Diseases|March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history studyBernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Journal of Inherited Metabolic Disease|January 31, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylationAn N Dang Do, Irene J Chang, Xutian Jiang, et al.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screeningJ Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.
Pediatrics|July 28, 2019
A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained EventJ Lawrence Merritt, Ricardo A Quinonez, Joshua L Bonkowsky, et al.
Journal of Inherited Metabolic Disease|December 16, 2020
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiencyGeorge A Diaz, Andreas Schulze, Markey C McNutt, et al.
Orphanet Journal of Rare Diseases|May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programRoberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Pediatrics|June 1, 2016
Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive SummaryJoel S Tieder, Joshua L Bonkowsky, Ruth A Etzel, et al.
Pediatrics|June 1, 2016
Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk InfantsJoel S Tieder, Joshua L Bonkowsky, Ruth A Etzel, et al.
Molecular Genetics and Metabolism|July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patientsGeorge A Diaz, Andreas Schulze, Nicola Longo, et al.
Orphanet Journal of Rare Diseases|March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history studyBernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Journal of Inherited Metabolic Disease|January 31, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylationAn N Dang Do, Irene J Chang, Xutian Jiang, et al.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
Pageof 5