M. Durán - Concepedia

Author

M. Durán

Also Known As

A. Osorio, Duran, M., Duran, Mercedes, Durán, Mercedes, Dutra-Clarke, Ana, J M Westdorp, Javier Benitez, K L Nathanson, Laure Dossus, M DURAN

406

Publications

12K

Citations

H-Index

184

Concepts

All Affiliations

Wilhelmina Children's Hospital University of Amsterdam Instituto de Biomedicina y Genética Molecular de Valladolid Amsterdam UMC Location University of Amsterdam Universidad de Valladolid

About

M. Durán is an author at Wilhelmina Children's Hospital specializing in medicine, metabolism, and biochemistry.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	36	100	3.6K
2	Health Sciences	17	20	978
3	Engineering	6	6	154
4	Arts	2	2	113
5	Education	1	1	34

M. Durán

188

Publications

8.7K

Citations

H-Index

Page 1

	Year	Citations
Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer Timothy R. Rebbeck, Nandita Mitra, Fei Wan, JAMA	2015	484
Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency G. F. Hoffmann, S. Athanassopoulos, A Burlina, Neuropediatrics	1996	227
L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism? M. Durán, J.P. Kamerling, H. D. Bakker, Journal of Inherited Metabolic Disease	1980	220
Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction Antonis C. Antoniou, Jonathan Beesley, Lesley McGuffog, Cancer Research	2010	184
Analysis of<i>BRCA1</i>and<i>BRCA2</i>genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects Ana Osório, M. Durán, José I. Martínez‐Ferrandis, Human Mutation	2003	169
Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Jean L. Johnson, William R. Waud, K.V. Rajagopalan, Proceedings of the National Academy of Sciences PathologyMolybdenum CofactorPlasma Molybdenum ConcentrationRedox BiologyOxidative Stress	1980	167
GAMT deficiency Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami, Neurology	2006	156
Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I) S. Kölker, E. Christensen, James V. Leonard, Journal of Inherited Metabolic Disease	2007	145
Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy Sacha Ferdinandusse, Panagiotis Kostopoulos, Simone Denis, The American Journal of Human Genetics Neurodegenerative DiseasesCause LeukencephalopathyNeurological DisorderGenetic DisorderGenetics	2006	139
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis Jaak Jaeken, S. K. Wadman, M. Durán, European Journal of Pediatrics BiosynthesisBiochemistryGenetic DisorderMedicineGenetics	1988	125

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