Floris C. Hofstede - Concepedia

Author

Floris C. Hofstede

Also Known As

F C Hofstede, F Hofstede, F.C. Hofstede, Floris C Hofstede, Floris C. Hofstede, Floris Hofstede, Hofstede, F. C., Hofstede, Floris

Publications

1.3K

Citations

H-Index

Concepts

All Affiliations

Wilhelmina Children's Hospital Radboud University Nijmegen University Medical Center Utrecht Amsterdam UMC Location University of Amsterdam Erasmus MC

About

Floris C. Hofstede is an author at Wilhelmina Children's Hospital specializing in medicine, inherited metabolic disease, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	420
2	Health Sciences	1	1	26
3	Natural Sciences	1	1	47
4	Social Sciences	1	1	41
5	Biochemistry	1	1	192

Floris C. Hofstede

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen, Science UrologySomatic VariantAldehyde DehydrogenaseBiochemistryGenetic Disorder	2010	192
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Journal of Medical Genetics	2013	159
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay Keren Machol, Justine Rousseau, Sophie Ehresmann, The American Journal of Human Genetics	2018	88
Metabolic Profiles in Children During Fasting Merel R. van Veen, Peter M. van Hasselt, Monique G.M. de Sain–van der Velden, PEDIATRICS	2011	85
Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study Rianne Jahja, Francjan J. van Spronsen, Leo de Sonneville, Journal of Inherited Metabolic Disease	2016	85
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study. Rianne Jahja, Stephan C. J. Huijbregts, Leo de Sonneville, Neuropsychology	2017	70
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study Rianne Jahja, Francjan J. van Spronsen, Leo de Sonneville, Behavior Genetics	2017	70
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Wim Wuyts, Sarvan K. Ramlakhan, Wim Van Hul, PubMed	1995	58
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the<i>GAMT</i>Gene Saadet Mercimek‐Mahmutoglu, Joseph Ndika, Warsha A. Kanhai, Human Mutation Guanidinoacetate Methyltransferase DeficiencyCreatine BiosynthesisThirteen New PatientsGeneticsHuman Polymorphism	2014	47
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study Vassili Valayannopoulos, Julien Baruteau, María Bueno Delgado, Orphanet Journal of Rare Diseases	2016	45

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