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Barbara Plecko

Showing results (21-30 of 113) with videos related to

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Neuropediatrics|December 4, 2013
Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case reportStephanie Porri, Joel Fluss, Barbara Plecko, et al.
Metabolites|August 29, 2020
A Metabolomics Workflow for Analyzing Complex Biological Samples Using a Combined Method of Untargeted and Target-List Based ApproachesThomas Züllig, Martina Zandl-Lang, Martin Trötzmüller, et al.
Swiss Medical Weekly|January 12, 2016
Swiss national prospective surveillance of paediatric Mycoplasma pneumoniae-associated encephalitisPatrick M Meyer Sauteur, Alexander Moeller, Christa Relly, et al.
Journal of Inherited Metabolic Disease|October 21, 2021
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type ITamara Mathis, Martin Poms, Harald Köfeler, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort studyLucia Abela, Barbara Plecko, Antonella Palla, et al.
Rapid Communications in Mass Spectrometry : RCM|May 10, 2005
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standardGuenter Fauler, Gerald N Rechberger, Danijela Devrnja, et al.
Molecular Genetics and Metabolism|July 21, 2009
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathyBirgit Acham-Roschitz, Barbara Plecko, Franz Lindbichler, et al.
International Journal of Molecular Sciences|March 29, 2023
Two Single Nucleotide Deletions in the <i>ABCD1</i> Gene Causing Distinct Phenotypes of X-Linked AdrenoleukodystrophyKatrin A Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner, et al.
Journal of Inherited Metabolic Disease|October 13, 2022
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsyLisa M Crowther, Martin Poms, Martina Zandl-Lang, et al.
Journal of Inherited Metabolic Disease|January 14, 2020
Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiencyThomas Boehm, Holger Hubmann, Karin Petroczi, et al.
Pageof 12

Showing results (21-30 of 113) with videos related to

Sort By:
Pageof 12
Neuropediatrics|December 4, 2013
Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case reportStephanie Porri, Joel Fluss, Barbara Plecko, et al.
Metabolites|August 29, 2020
A Metabolomics Workflow for Analyzing Complex Biological Samples Using a Combined Method of Untargeted and Target-List Based ApproachesThomas Züllig, Martina Zandl-Lang, Martin Trötzmüller, et al.
Swiss Medical Weekly|January 12, 2016
Swiss national prospective surveillance of paediatric Mycoplasma pneumoniae-associated encephalitisPatrick M Meyer Sauteur, Alexander Moeller, Christa Relly, et al.
Journal of Inherited Metabolic Disease|October 21, 2021
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type ITamara Mathis, Martin Poms, Harald Köfeler, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort studyLucia Abela, Barbara Plecko, Antonella Palla, et al.
Rapid Communications in Mass Spectrometry : RCM|May 10, 2005
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standardGuenter Fauler, Gerald N Rechberger, Danijela Devrnja, et al.
Molecular Genetics and Metabolism|July 21, 2009
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathyBirgit Acham-Roschitz, Barbara Plecko, Franz Lindbichler, et al.
International Journal of Molecular Sciences|March 29, 2023
Two Single Nucleotide Deletions in the <i>ABCD1</i> Gene Causing Distinct Phenotypes of X-Linked AdrenoleukodystrophyKatrin A Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner, et al.
Journal of Inherited Metabolic Disease|October 13, 2022
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsyLisa M Crowther, Martin Poms, Martina Zandl-Lang, et al.
Journal of Inherited Metabolic Disease|January 14, 2020
Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiencyThomas Boehm, Holger Hubmann, Karin Petroczi, et al.
Pageof 12