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Heidi Peters

Showing results (11-20 of 35) with videos related to

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Molecular Genetics and Metabolism|July 12, 2015
Metabolite studies in HIBCH and ECHS1 defects: Implications for screeningHeidi Peters, Sacha Ferdinandusse, Jos P Ruiter, et al.
Journal of Inherited Metabolic Disease|December 17, 2014
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutationsJames J Pitt, Heidi Peters, Avihu Boneh, et al.
The Journal of Biological Chemistry|October 14, 2003
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethalityHeidi Peters, Mikhail Nefedov, Joseph Sarsero, et al.
Brain : a Journal of Neurology|August 16, 2014
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolismHeidi Peters, Nicole Buck, Ronald Wanders, et al.
Genomics|April 25, 2006
A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemiaDuangporn Jamsai, Faten Zaibak, Jim Vadolas, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in femalesKathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
American Journal of Medical Genetics|September 5, 2002
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathyJohan L K Van Hove, Rita Van Damme-Lombaerts, Stephanie Grünewald, et al.
Neuromuscular Disorders : NMD|January 26, 2015
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe diseaseLaura E Case, Carl Bjartmar, Claire Morgan, et al.
Seminars in Pediatric Neurology|July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeIan R Woodcock, Manoj P Menezes, Lee Coleman, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|July 12, 2015
Metabolite studies in HIBCH and ECHS1 defects: Implications for screeningHeidi Peters, Sacha Ferdinandusse, Jos P Ruiter, et al.
Journal of Inherited Metabolic Disease|December 17, 2014
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutationsJames J Pitt, Heidi Peters, Avihu Boneh, et al.
The Journal of Biological Chemistry|October 14, 2003
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethalityHeidi Peters, Mikhail Nefedov, Joseph Sarsero, et al.
Brain : a Journal of Neurology|August 16, 2014
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolismHeidi Peters, Nicole Buck, Ronald Wanders, et al.
Genomics|April 25, 2006
A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemiaDuangporn Jamsai, Faten Zaibak, Jim Vadolas, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in femalesKathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
American Journal of Medical Genetics|September 5, 2002
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathyJohan L K Van Hove, Rita Van Damme-Lombaerts, Stephanie Grünewald, et al.
Neuromuscular Disorders : NMD|January 26, 2015
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe diseaseLaura E Case, Carl Bjartmar, Claire Morgan, et al.
Seminars in Pediatric Neurology|July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeIan R Woodcock, Manoj P Menezes, Lee Coleman, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Pageof 4