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Heidi Peters

Showing results (21-30 of 35) with videos related to

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Blood|January 26, 2022
Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1Daniela Castiblanco, Jesse A Rudd-Schmidt, Tahereh Noori, et al.
The Journal of Pediatrics|June 16, 2022
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIBIlyas Okur, Fatih Ezgu, Roberto Giugliani, et al.
Internal Medicine Journal|March 13, 2026
An Australian standard of care for Niemann-Pick disease type CMichel Tchan, Nicholas Smith, Heidi Peters, et al.
Metabolism: Clinical and Experimental|January 30, 2026
Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trialMaria Giżewska, Anita Inwood, Renáta Tyčová, et al.
Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.
International Journal of Molecular Sciences|January 21, 2022
Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionNicole J Van Bergen, Daniella H Hock, Lucy Spencer, et al.
JAMA Pediatrics|August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic ConditionsTiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.
The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Blood|January 26, 2022
Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1Daniela Castiblanco, Jesse A Rudd-Schmidt, Tahereh Noori, et al.
The Journal of Pediatrics|June 16, 2022
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIBIlyas Okur, Fatih Ezgu, Roberto Giugliani, et al.
Internal Medicine Journal|March 13, 2026
An Australian standard of care for Niemann-Pick disease type CMichel Tchan, Nicholas Smith, Heidi Peters, et al.
Metabolism: Clinical and Experimental|January 30, 2026
Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trialMaria Giżewska, Anita Inwood, Renáta Tyčová, et al.
Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.
International Journal of Molecular Sciences|January 21, 2022
Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionNicole J Van Bergen, Daniella H Hock, Lucy Spencer, et al.
JAMA Pediatrics|August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic ConditionsTiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.
The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
Pageof 4