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Barbara Plecko

Showing results (51-60 of 113) with videos related to

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Plos One|May 3, 2017
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiencyLucia Abela, Ronen Spiegel, Lisa M Crowther, et al.
Diagnostics (Basel, Switzerland)|August 28, 2020
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in NewbornsTomaž Rozmarič, Goran Mitulović, Vassiliki Konstantopoulou, et al.
Journal of Inherited Metabolic Disease|July 16, 2015
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomicsLucia Abela, Luke Simmons, Katharina Steindl, et al.
Human Mutation|May 28, 2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidaseDoris Hofer, Karl Paul, Katrin Fantur, et al.
Journal of Inherited Metabolic Disease|April 25, 2012
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patientsElisabeth Sterl, Karl Paul, Eduard Paschke, et al.
Nature Medicine|February 24, 2006
Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPhilippa B Mills, Eduard Struys, Cornelis Jakobs, et al.
Molecular Genetics and Metabolism|June 4, 2021
Project "Backtoclinic I": An overview on the state of care of adult PKU patients in AustriaMarianna Beghini, Felix J Resch, Dorothea Möslinger, et al.
Neuropediatrics|August 23, 2012
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRESAndreas van Baalen, Martin Häusler, Barbara Plecko-Startinig, et al.
Neurology|March 25, 2014
Pyridoxine responsiveness in novel mutations of the PNPO geneBarbara Plecko, Karl Paul, Philippa Mills, et al.
Human Mutation|February 2, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemiaShigeo Kure, Kumi Kato, Agirios Dinopoulos, et al.
Pageof 12

Showing results (51-60 of 113) with videos related to

Sort By:
Pageof 12
Plos One|May 3, 2017
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiencyLucia Abela, Ronen Spiegel, Lisa M Crowther, et al.
Diagnostics (Basel, Switzerland)|August 28, 2020
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in NewbornsTomaž Rozmarič, Goran Mitulović, Vassiliki Konstantopoulou, et al.
Journal of Inherited Metabolic Disease|July 16, 2015
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomicsLucia Abela, Luke Simmons, Katharina Steindl, et al.
Human Mutation|May 28, 2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidaseDoris Hofer, Karl Paul, Katrin Fantur, et al.
Journal of Inherited Metabolic Disease|April 25, 2012
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patientsElisabeth Sterl, Karl Paul, Eduard Paschke, et al.
Nature Medicine|February 24, 2006
Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPhilippa B Mills, Eduard Struys, Cornelis Jakobs, et al.
Molecular Genetics and Metabolism|June 4, 2021
Project "Backtoclinic I": An overview on the state of care of adult PKU patients in AustriaMarianna Beghini, Felix J Resch, Dorothea Möslinger, et al.
Neuropediatrics|August 23, 2012
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRESAndreas van Baalen, Martin Häusler, Barbara Plecko-Startinig, et al.
Neurology|March 25, 2014
Pyridoxine responsiveness in novel mutations of the PNPO geneBarbara Plecko, Karl Paul, Philippa Mills, et al.
Human Mutation|February 2, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemiaShigeo Kure, Kumi Kato, Agirios Dinopoulos, et al.
Pageof 12