Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

R A Wevers

Showing results (211-220 of 222) with videos related to

Pageof 23
Sort By:
Journal of Inherited Metabolic Disease|March 31, 2024
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuriaA M J van Wegberg, J C van der Weerd, U F H Engelke, et al.
Community Genetics|June 8, 2004
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequencyM G Ausems, K ten Berg, M A Kroos, et al.
Neurology|September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathyS B Wortmann, B H Kremer, A Graham, et al.
Journal of Inherited Metabolic Disease|February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentationP DE Lonlay, M C Nassogne, A H van Gennip, et al.
Biochemical and Biophysical Research Communications|November 9, 2005
Aminoacylase I deficiency: a novel inborn error of metabolismR N Van Coster, E A Gerlo, T G Giardina, et al.
The Journal of Clinical Endocrinology and Metabolism|December 3, 2014
Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomicsJ U Rao, U F H Engelke, F C G J Sweep, et al.
Journal of Medical Genetics|June 1, 1996
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeJ L Keulemans, A J Reuser, M A Kroos, et al.
Biochimica Et Biophysica Acta|March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternM Mohamed, M Guillard, S B Wortmann, et al.
Journal of Breath Research|January 30, 2016
Identification of Pseudomonas aeruginosa and Aspergillus fumigatus mono- and co-cultures based on volatile biomarker combinationsA H Neerincx, B P Geurts, M F J Habets, et al.
Brain : a Journal of Neurology|January 21, 2009
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)F Mochel, F Sedel, A Vanderver, et al.
Pageof 23

Showing results (211-220 of 222) with videos related to

Sort By:
Pageof 23
Journal of Inherited Metabolic Disease|March 31, 2024
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuriaA M J van Wegberg, J C van der Weerd, U F H Engelke, et al.
Community Genetics|June 8, 2004
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequencyM G Ausems, K ten Berg, M A Kroos, et al.
Neurology|September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathyS B Wortmann, B H Kremer, A Graham, et al.
Journal of Inherited Metabolic Disease|February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentationP DE Lonlay, M C Nassogne, A H van Gennip, et al.
Biochemical and Biophysical Research Communications|November 9, 2005
Aminoacylase I deficiency: a novel inborn error of metabolismR N Van Coster, E A Gerlo, T G Giardina, et al.
The Journal of Clinical Endocrinology and Metabolism|December 3, 2014
Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomicsJ U Rao, U F H Engelke, F C G J Sweep, et al.
Journal of Medical Genetics|June 1, 1996
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeJ L Keulemans, A J Reuser, M A Kroos, et al.
Biochimica Et Biophysica Acta|March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternM Mohamed, M Guillard, S B Wortmann, et al.
Journal of Breath Research|January 30, 2016
Identification of Pseudomonas aeruginosa and Aspergillus fumigatus mono- and co-cultures based on volatile biomarker combinationsA H Neerincx, B P Geurts, M F J Habets, et al.
Brain : a Journal of Neurology|January 21, 2009
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)F Mochel, F Sedel, A Vanderver, et al.
Pageof 23