Floris C. Hofstede
Utrecht, UT, Netherlands
Last Updated: 09/26/2026
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Found 23 publications
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.
Journal: American journal of medical genetics. Part A
Published: July 31, 2025
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Journal: American journal of human genetics
Published: November 09, 2023
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.
Journal: Genetics in medicine open
Published: September 18, 2023
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
Journal: Journal of inherited metabolic disease
Published: March 04, 2022
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
Journal: American journal of medical genetics. Part A
Published: May 28, 2021
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Journal: American journal of human genetics
Published: June 15, 2018
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.
Journal: Molecular genetics and metabolism
Published: May 11, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 09, 2017
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
Journal: Neuropsychology
Published: March 21, 2017
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.
Journal: Behavior genetics
Published: December 29, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.
Journal: Orphanet journal of rare diseases
Published: December 06, 2015
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
Journal: Orphanet journal of rare diseases
Published: October 10, 2015
Last Updated: 09/26/2026