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Ron A Wevers

Showing results (131-140 of 266) with videos related to

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NPJ Genomic Medicine|July 9, 2020
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genesEmma J Graham Linck, Phillip A Richmond, Maja Tarailo-Graovac, et al.
Neurology|December 12, 2018
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment startBianca M L Stelten, Hidde H Huidekoper, Bart P C van de Warrenburg, et al.
Plos One|September 26, 2015
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and MucolipidosesEveline J Langereis, Tom Wagemans, Wim Kulik, et al.
Molecular Genetics and Metabolism|March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritisSaikat Santra, Jessie M Cameron, Casper Shyr, et al.
Journal of Inherited Metabolic Disease|July 27, 2012
Sjögren-Larsson syndrome in clinical practiceJoris Fuijkschot, Thomas Theelen, Marieke M B Seyger, et al.
Journal of Inherited Metabolic Disease|March 25, 2011
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type IMailys Guillard, Yoshinao Wada, Hana Hansikova, et al.
American Journal of Human Genetics|February 9, 2006
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolismJorn Oliver Sass, Verena Mohr, Heike Olbrich, et al.
Annals of Clinical Biochemistry|January 25, 2003
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetaseWim Ruitenbeek, Keiko Kobayashi, Mikio Iijima, et al.
Journal of Inherited Metabolic Disease|November 16, 2017
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectraJan Václavík, Karlien L M Coene, Ivo Vrobel, et al.
Journal of the Neurological Sciences|January 25, 2013
A novel mutation in COQ2 leading to fatal infantile multisystem diseaseBernadette S Jakobs, Lambert P van den Heuvel, Roel J P Smeets, et al.
Pageof 27

Showing results (131-140 of 266) with videos related to

Sort By:
Pageof 27
NPJ Genomic Medicine|July 9, 2020
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genesEmma J Graham Linck, Phillip A Richmond, Maja Tarailo-Graovac, et al.
Neurology|December 12, 2018
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment startBianca M L Stelten, Hidde H Huidekoper, Bart P C van de Warrenburg, et al.
Plos One|September 26, 2015
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and MucolipidosesEveline J Langereis, Tom Wagemans, Wim Kulik, et al.
Molecular Genetics and Metabolism|March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritisSaikat Santra, Jessie M Cameron, Casper Shyr, et al.
Journal of Inherited Metabolic Disease|July 27, 2012
Sjögren-Larsson syndrome in clinical practiceJoris Fuijkschot, Thomas Theelen, Marieke M B Seyger, et al.
Journal of Inherited Metabolic Disease|March 25, 2011
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type IMailys Guillard, Yoshinao Wada, Hana Hansikova, et al.
American Journal of Human Genetics|February 9, 2006
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolismJorn Oliver Sass, Verena Mohr, Heike Olbrich, et al.
Annals of Clinical Biochemistry|January 25, 2003
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetaseWim Ruitenbeek, Keiko Kobayashi, Mikio Iijima, et al.
Journal of Inherited Metabolic Disease|November 16, 2017
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectraJan Václavík, Karlien L M Coene, Ivo Vrobel, et al.
Journal of the Neurological Sciences|January 25, 2013
A novel mutation in COQ2 leading to fatal infantile multisystem diseaseBernadette S Jakobs, Lambert P van den Heuvel, Roel J P Smeets, et al.
Pageof 27