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R A Wevers

Showing results (181-190 of 222) with videos related to

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Annals of Human Genetics|June 28, 2001
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndromeP E Jira, R J Wanders, J A Smeitink, et al.
American Journal of Human Genetics|March 7, 2001
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiencyB A Binzak, R A Wevers, S H Moolenaar, et al.
Journal of Medical Genetics|July 6, 2004
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)E Schollen, C G Frank, L Keldermans, et al.
Journal of Medical Genetics|April 3, 2004
DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndromeJ Deinum, G C H Steenbergen-Spanjers, M Jansen, et al.
NMR in Biomedicine|February 23, 2010
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiencyM Henneke, S Dreha-Kulaczewski, K Brockmann, 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 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.
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.
The Netherlands Journal of Medicine|April 9, 2015
Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage diseaseB Sjouke, J W J van der Stappen, J E M Groener, et al.
Metabolism: Clinical and Experimental|February 19, 1999
Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosisA Verrips, R A Wevers, B G Van Engelen, et al.
Pageof 23

Showing results (181-190 of 222) with videos related to

Sort By:
Pageof 23
Annals of Human Genetics|June 28, 2001
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndromeP E Jira, R J Wanders, J A Smeitink, et al.
American Journal of Human Genetics|March 7, 2001
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiencyB A Binzak, R A Wevers, S H Moolenaar, et al.
Journal of Medical Genetics|July 6, 2004
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)E Schollen, C G Frank, L Keldermans, et al.
Journal of Medical Genetics|April 3, 2004
DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndromeJ Deinum, G C H Steenbergen-Spanjers, M Jansen, et al.
NMR in Biomedicine|February 23, 2010
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiencyM Henneke, S Dreha-Kulaczewski, K Brockmann, 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 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.
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.
The Netherlands Journal of Medicine|April 9, 2015
Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage diseaseB Sjouke, J W J van der Stappen, J E M Groener, et al.
Metabolism: Clinical and Experimental|February 19, 1999
Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosisA Verrips, R A Wevers, B G Van Engelen, et al.
Pageof 23