Floris C Hofstede

Floris C Hofstede

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Floris C Hofstede

Floris C Hofstede

Publications by authors named "Floris C Hofstede"

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17Publications

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Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Orphanet J Rare Dis 2016 Jan 29;11:10. Epub 2016 Jan 29.

University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, PO box 30.001, CA33, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-016-0394-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731980PMC
January 2016

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Mol Genet Metab 2015 Mar 12;114(3):425-30. Epub 2014 Dec 12.

Department of Clinical Child and Adolescents Studies, Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.12.302DOI Listing
March 2015

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

Mol Genet Metab 2013 22;110 Suppl:S57-61. Epub 2013 Oct 22.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.011DOI Listing
July 2014

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014

Metabolic profiles in children during fasting.

Pediatrics 2011 Apr 21;127(4):e1021-7. Epub 2011 Mar 21.

Department of Metabolic and Endocrine Diseases, Wilhelmina Children's Hospital Utrecht, University Medical Center, Utrecht, the Netherlands.

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http://dx.doi.org/10.1542/peds.2010-1706DOI Listing
April 2011