Silvy J.M. van Dooren

Author

Amsterdam UMC Location Vrije Universiteit Amsterdam

Also Known As

S. J. M. Van Dooren, S.J.M. van Dooren, Silvy J M van Dooren, Silvy J. M. Dooren, Silvy J. M. van Dooren, Silvy J.M. Dooren, Silvy J.M. van Dooren, Silvy J M van Dooren, Silvy J.M. van Dooren

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

Amsterdam UMC Location Vrije Universiteit Amsterdam Amsterdam Neuroscience University of Amsterdam University of Bern Erasmus MC

About

Silvy J.M. van Dooren is an author at Amsterdam UMC Location Vrije Universiteit Amsterdam specializing in medicine, genetics, and molecular biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	906
2	Biochemistry	5	5	421
3	Natural Sciences	3	3	266
4	Engineering	1	1	11
5	Cell Biology	1	1	11

Silvy J.M. van Dooren

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome Gajja S. Salomons, Silvy J.M. van Dooren, Nanda M. Verhoeven, The American Journal of Human Genetics Genetic DisorderGeneticsMolecular BiologyX-linked Creatine-transporter GeneMolecular Genetics	2001	392
Alexander disease Marjo S. van der Knaap, Venkateswari Ramesh, Raphael Schiffmann, Neurology	2006	145
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria Benjamin Nota, Eduard A. Struys, Ana Pop, The American Journal of Human Genetics Causes Combined D-2-L-2-hydroxyglutaric AciduriaMitochondrial Citrate CarrierMitochondrial FunctionBiochemistry	2013	138
Characterization of a Hemoglobin Protease Secreted by the Pathogenic <i>Escherichia coli</i> Strain EB1 Ben R. Otto, Silvy J.M. van Dooren, Jan H. Nuijens, The Journal of Experimental Medicine Iron SourceHeme AcquisitionBiochemistryIron MetabolismHeme Compounds	1998	137
DNA supercoiling depends on the phosphorylation potential in <i>Escherichia coli</i> Marielle van Workum, Silvy J.M. van Dooren, Nienke Oldenburg, Molecular Microbiology BacteriologyAtp/adp RatiosMolecular BiologyEscherichia ColiMetabolic Model	1996	112
<i>Escherichia coli</i> Hemoglobin Protease Autotransporter Contributes to Synergistic Abscess Formation and Heme-Dependent Growth of <i>Bacteroides fragilis</i> Ben R. Otto, Silvy J.M. van Dooren, Charles M. Dozois, Infection and Immunity	2002	73
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application Efraim H. Rosenberg, Cristina Martínez Muñoz, Ofir T. Betsalel, Human Mutation	2007	58
Reduced response of Cystathionine Beta‐Synthase (CBS) to S‐Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients Marisa I. Mendes, Henrique G. Colaço, Desirée E.C. Smith, Journal of Inherited Metabolic Disease	2013	36
An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants Ana Pop, Monique Williams, Eduard A. Struys, Journal of Inherited Metabolic Disease	2017	35
Genotype–phenotype correlation of contiguous gene deletions of <i><scp>SLC6A8</scp>, <scp>BCAP31</scp></i> and <scp><i>ABCD1</i></scp> Jiddeke M. van de Kamp, Abdellatif Errami, M. Howidi, Clinical Genetics Bcap31 GeneGeneticsPathologyMolecular GeneticsDisease Gene Identification	2014	32

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