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Esther M Maier

Showing results (21-30 of 64) with videos related to

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Plos One|June 28, 2024
Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophyJessica Bzdok, Ludwig Czibere, Siegfried Burggraf, et al.
American Journal of Medical Genetics. Part A|February 22, 2005
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literatureMarjolijn Jongmans, Erik A Sistermans, Alwin Rikken, et al.
Molecular Genetics and Metabolism|May 18, 2005
Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screeningUta Nennstiel-Ratzel, Stephan Arenz, Esther M Maier, et al.
Neuropediatrics|January 8, 2025
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2Claudia S Priglinger, Carolina Courage, Amelie S Lotz-Havla, et al.
Clinical Genetics|February 25, 2023
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlationKatharina J Weiss, Ursula Berger, Maliha Haider, et al.
Molecular Genetics and Metabolism Reports|June 28, 2021
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experienceKatharina A Schiergens, Katharina J Weiss, Wulf Röschinger, et al.
Human Molecular Genetics|February 20, 2009
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screeningEsther M Maier, Søren W Gersting, Kristina F Kemter, et al.
Journal of Inherited Metabolic Disease|September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parametersNikolas Boy, Gisela Haege, Jana Heringer, et al.
Journal of Neurology|March 31, 2020
Retinal axonal degeneration in Niemann-Pick type C diseaseJoachim Havla, Marlene Moser, Clara Sztatecsny, et al.
American Journal of Human Genetics|November 24, 2001
Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiencyAndreas Holzinger, Esther M Maier, Cornelius Bück, et al.
Pageof 7

Showing results (21-30 of 64) with videos related to

Sort By:
Pageof 7
Plos One|June 28, 2024
Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophyJessica Bzdok, Ludwig Czibere, Siegfried Burggraf, et al.
American Journal of Medical Genetics. Part A|February 22, 2005
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literatureMarjolijn Jongmans, Erik A Sistermans, Alwin Rikken, et al.
Molecular Genetics and Metabolism|May 18, 2005
Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screeningUta Nennstiel-Ratzel, Stephan Arenz, Esther M Maier, et al.
Neuropediatrics|January 8, 2025
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2Claudia S Priglinger, Carolina Courage, Amelie S Lotz-Havla, et al.
Clinical Genetics|February 25, 2023
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlationKatharina J Weiss, Ursula Berger, Maliha Haider, et al.
Molecular Genetics and Metabolism Reports|June 28, 2021
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experienceKatharina A Schiergens, Katharina J Weiss, Wulf Röschinger, et al.
Human Molecular Genetics|February 20, 2009
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screeningEsther M Maier, Søren W Gersting, Kristina F Kemter, et al.
Journal of Inherited Metabolic Disease|September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parametersNikolas Boy, Gisela Haege, Jana Heringer, et al.
Journal of Neurology|March 31, 2020
Retinal axonal degeneration in Niemann-Pick type C diseaseJoachim Havla, Marlene Moser, Clara Sztatecsny, et al.
American Journal of Human Genetics|November 24, 2001
Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiencyAndreas Holzinger, Esther M Maier, Cornelius Bück, et al.
Pageof 7