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G Okun

Showing results (111-120 of 157) with videos related to

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Journal of Inherited Metabolic Disease|May 4, 2016
Genetic cause and prevalence of hydroxyprolinemiaChristian Staufner, Tobias B Haack, Patrik Feyh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disordersRoland Posset, Sven F Garbade, Florian Gleich, et al.
Clinical Immunology (Orlando, Fla.)|December 6, 2016
Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)Laura Tagliaferri, Joachim B Kunz, Margit Happich, et al.
Scientific Reports|August 28, 2019
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolismOsama Y Al-Dirbashi, Majid Alfadhel, Khalid Al-Thihli, et al.
Molecular Genetics and Metabolism|February 1, 2024
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculationsAnna T Reischl-Hajiabadi, Jürgen G Okun, Dirk Kohlmüller, et al.
Annals of Clinical and Translational Neurology|October 11, 2022
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiencySvenja Scharre, Roland Posset, Sven F Garbade, et al.
Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Nutrients|August 12, 2023
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and HomocystinuriaElena Schnabel, Stefan Kölker, Florian Gleich, et al.
American Journal of Human Genetics|November 13, 2012
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaKatharina Danhauser, Sven W Sauer, Tobias B Haack, et al.
Journal of Neurochemistry|April 1, 2006
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiencySven W Sauer, Jürgen G Okun, Gert Fricker, et al.
Pageof 16

Showing results (111-120 of 157) with videos related to

Sort By:
Pageof 16
Journal of Inherited Metabolic Disease|May 4, 2016
Genetic cause and prevalence of hydroxyprolinemiaChristian Staufner, Tobias B Haack, Patrik Feyh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disordersRoland Posset, Sven F Garbade, Florian Gleich, et al.
Clinical Immunology (Orlando, Fla.)|December 6, 2016
Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)Laura Tagliaferri, Joachim B Kunz, Margit Happich, et al.
Scientific Reports|August 28, 2019
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolismOsama Y Al-Dirbashi, Majid Alfadhel, Khalid Al-Thihli, et al.
Molecular Genetics and Metabolism|February 1, 2024
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculationsAnna T Reischl-Hajiabadi, Jürgen G Okun, Dirk Kohlmüller, et al.
Annals of Clinical and Translational Neurology|October 11, 2022
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiencySvenja Scharre, Roland Posset, Sven F Garbade, et al.
Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Nutrients|August 12, 2023
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and HomocystinuriaElena Schnabel, Stefan Kölker, Florian Gleich, et al.
American Journal of Human Genetics|November 13, 2012
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaKatharina Danhauser, Sven W Sauer, Tobias B Haack, et al.
Journal of Neurochemistry|April 1, 2006
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiencySven W Sauer, Jürgen G Okun, Gert Fricker, et al.
Pageof 16