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Esther M Maier

Showing results (11-20 of 64) with videos related to

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Genes|November 27, 2024
A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn ScreeningJessica Bzdok, Ludwig Czibere, Siegfried Burggraf, et al.
Annals of Nutrition & Metabolism|July 20, 2020
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood SpotsKatharina J Weiss, Wulf Röschinger, Holger Blessing, et al.
Frontiers in Neurology|October 17, 2022
Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuriaAmelie S Lotz-Havla, Sabrina Katzdobler, Brigitte Nuscher, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Disease manifestations and X inactivation in heterozygous females with Fabry diseaseEsther M Maier, Stephanie Osterrieder, Catharina Whybra, et al.
Orphanet Journal of Rare Diseases|July 22, 2018
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyAmelie S Lotz-Havla, Wulf Röschinger, Katharina Schiergens, et al.
Orphanet Journal of Rare Diseases|May 13, 2021
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injectionsAmelie S Lotz-Havla, Katharina J Weiß, Katharina A Schiergens, et al.
Frontiers in Neurology|December 27, 2021
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase DeficiencyAmelie S Lotz-Havla, Katharina Weiß, Katharina Schiergens, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, et al.
Human Mutation|April 16, 2005
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.
Biochemical and Biophysical Research Communications|October 7, 2008
X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotypeEsther M Maier, Peter U Mayerhofer, Muriel Asheuer, et al.
Pageof 7

Showing results (11-20 of 64) with videos related to

Sort By:
Pageof 7
Genes|November 27, 2024
A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn ScreeningJessica Bzdok, Ludwig Czibere, Siegfried Burggraf, et al.
Annals of Nutrition & Metabolism|July 20, 2020
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood SpotsKatharina J Weiss, Wulf Röschinger, Holger Blessing, et al.
Frontiers in Neurology|October 17, 2022
Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuriaAmelie S Lotz-Havla, Sabrina Katzdobler, Brigitte Nuscher, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Disease manifestations and X inactivation in heterozygous females with Fabry diseaseEsther M Maier, Stephanie Osterrieder, Catharina Whybra, et al.
Orphanet Journal of Rare Diseases|July 22, 2018
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyAmelie S Lotz-Havla, Wulf Röschinger, Katharina Schiergens, et al.
Orphanet Journal of Rare Diseases|May 13, 2021
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injectionsAmelie S Lotz-Havla, Katharina J Weiß, Katharina A Schiergens, et al.
Frontiers in Neurology|December 27, 2021
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase DeficiencyAmelie S Lotz-Havla, Katharina Weiß, Katharina Schiergens, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, et al.
Human Mutation|April 16, 2005
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.
Biochemical and Biophysical Research Communications|October 7, 2008
X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotypeEsther M Maier, Peter U Mayerhofer, Muriel Asheuer, et al.
Pageof 7