Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Silvy J.M. van Dooren | Researchclopedia

Back to researchers

Silvy J.M. van Dooren

Amsterdam University Medical Centers

26

Works

1,729

Citations

18

h-index

20

i10-index

Research Topics

Metabolism and Genetic Disorders Muscle metabolism and nutrition Biochemical and Molecular Research

Affiliations

National Institutes of Health2006–2006

North Tyneside General Hospital2006–2006

Hospital for Sick Children2006–2006

University Medical Center2013–2013

The Netherlands Cancer Institute1996–1996

Top Works

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Gajja S. Salomons,Silvy J.M. van Dooren,et al.

2001394 citations

Amino Acid Enzymes and Metabolism

Bacterial Genetics and Biotechnology

X‐linked creatine transporter defect: An overview

Gajja S. Salomons,Silvy J.M. van Dooren,et al.

2003171 citations

Alexander disease

Marjo S. van der Knaap,Venkateswari Ramesh,et al.

2006146 citations

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Benjamin Nota,Eduard A. Struys,et al.

2013139 citations

Characterization of a Hemoglobin Protease Secreted by the Pathogenic <i>Escherichia coli</i> Strain EB1

Ben R. Otto,Silvy J.M. van Dooren,et al.

1998137 citations

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

Marjan E. Steenweg,Cornelis Jakobs,et al.

2010120 citations

DNA supercoiling depends on the phosphorylation potential in <i>Escherichia coli</i>

Marielle van Workum,Silvy J.M. van Dooren,et al.

1996112 citations

The genotypic spectrum of <i>ALDH7A1</i> mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Curtis R. Coughlin,Michael A. Swanson,et al.

201999 citations

<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,et al.

200273 citations