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Showing results (341-350 of 543) with videos related to

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Molecular Genetics and Metabolism Reports|December 7, 2023
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersSheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Elevated plasma chitotriosidase activity in various lysosomal storage disordersY Guo, W He, A M Boer, et al.
Journal of Child Neurology|May 23, 2009
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency caseMaria Tassini, Raffaella Zannolli, Sabrina Buoni, et al.
Prostaglandins, Leukotrienes, and Essential Fatty Acids|July 7, 2020
Evaluation of cyclooxygenase oxylipins as potential biomarker for obesity-associated adipose tissue inflammation and type 2 diabetes using targeted multiple reaction monitoring mass spectrometryRoel Tans, Rieke Bande, Arno van Rooij, et al.
Plos One|August 13, 2013
Optimized metabolomic approach to identify uremic solutes in plasma of stage 3-4 chronic kidney disease patientsHenricus A M Mutsaers, Udo F H Engelke, Martijn J G Wilmer, et al.
Journal of Inherited Metabolic Disease|March 28, 2002
Selective screening for inborn errors of metabolism: the primary care-based model in rural CreteA Evangeliou, C Lionis, H Michailidou, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Symptomatic lipid storage in carriers for the PNPLA2 geneMirian C H Janssen, Baziel van Engelen, Livia Kapusta, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 17, 2009
Expression of sialidase and dystroglycan in human glomerular diseasesNils P J Vogtländer, Johan van der Vlag, Marinka A H Bakker, et al.
Annals of Neurology|November 10, 2010
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlationsMarlies J Valstar, Sanne Neijs, Hennie T Bruggenwirth, et al.
Neurology|April 11, 2008
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?M C Ørngreen, H J Schelhaas, T D Jeppesen, et al.
Pageof 55

Showing results (341-350 of 543) with videos related to

Sort By:
Pageof 55
Molecular Genetics and Metabolism Reports|December 7, 2023
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersSheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Elevated plasma chitotriosidase activity in various lysosomal storage disordersY Guo, W He, A M Boer, et al.
Journal of Child Neurology|May 23, 2009
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency caseMaria Tassini, Raffaella Zannolli, Sabrina Buoni, et al.
Prostaglandins, Leukotrienes, and Essential Fatty Acids|July 7, 2020
Evaluation of cyclooxygenase oxylipins as potential biomarker for obesity-associated adipose tissue inflammation and type 2 diabetes using targeted multiple reaction monitoring mass spectrometryRoel Tans, Rieke Bande, Arno van Rooij, et al.
Plos One|August 13, 2013
Optimized metabolomic approach to identify uremic solutes in plasma of stage 3-4 chronic kidney disease patientsHenricus A M Mutsaers, Udo F H Engelke, Martijn J G Wilmer, et al.
Journal of Inherited Metabolic Disease|March 28, 2002
Selective screening for inborn errors of metabolism: the primary care-based model in rural CreteA Evangeliou, C Lionis, H Michailidou, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Symptomatic lipid storage in carriers for the PNPLA2 geneMirian C H Janssen, Baziel van Engelen, Livia Kapusta, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 17, 2009
Expression of sialidase and dystroglycan in human glomerular diseasesNils P J Vogtländer, Johan van der Vlag, Marinka A H Bakker, et al.
Annals of Neurology|November 10, 2010
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlationsMarlies J Valstar, Sanne Neijs, Hennie T Bruggenwirth, et al.
Neurology|April 11, 2008
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?M C Ørngreen, H J Schelhaas, T D Jeppesen, et al.
Pageof 55