Floris C Hofstede
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Explore the profile of Floris C Hofstede including associated specialties, affiliations and a list of published articles.
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20
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426
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Recent Articles
1.
Ferreira E, Hofstede F, Haijes-Siepel H, Lichtenbelt K, Pistorius L, de Sain-van der Velden M, et al.
Genet Med Open
. 2024 Dec;
2:101853.
PMID: 39669634
Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may...
2.
van Vliet K, van Ginkel W, Jahja R, Daly A, MacDonald A, Santra S, et al.
J Inherit Metab Dis
. 2022 Jun;
45(5):952-962.
PMID: 35722880
Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1...
3.
VanSickle E, Michael J, Bachmann A, Rajasekaran S, Prokop J, Kuzniecky R, et al.
Am J Med Genet A
. 2021 Sep;
185(11):3485-3493.
PMID: 34477286
Bachmann-Bupp syndrome (BABS) is a rare syndrome caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). BABS is characterized by developmental delay, macrocephaly,...
4.
Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen T, Spillmann R, et al.
Am J Hum Genet
. 2018 Dec;
104(1):164-178.
PMID: 30580808
SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in...
5.
Huijbregts S, Bosch A, Simons Q, Jahja R, Brouwers M, de Sonneville L, et al.
Mol Genet Metab
. 2018 Jul;
125(1-2):96-103.
PMID: 30007854
The aim of this study was to examine Health-Related Quality of Life (HRQoL) of patients with Phenylketonuria (PKU) in three different age groups and to investigate the impact of metabolic...
6.
Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, et al.
Eur J Paediatr Neurol
. 2018 Mar;
22(3):369-379.
PMID: 29506905
Purpose: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment...
7.
Jahja R, van Spronsen F, de Sonneville L, van der Meere J, Bosch A, Hollak C, et al.
Behav Genet
. 2017 Aug;
47(5):486-497.
PMID: 28776207
Cognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated with metabolic control and its history. For the present study executive functioning...
8.
Jahja R, Huijbregts S, de Sonneville L, van der Meere J, Legemaat A, Bosch A, et al.
Neuropsychology
. 2017 Mar;
31(4):437-447.
PMID: 28318283
Objective: Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The...
9.
Valayannopoulos V, Baruteau J, Delgado M, Cano A, Couce M, Del Toro M, et al.
Orphanet J Rare Dis
. 2016 Apr;
11:32.
PMID: 27030250
Background: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of...
10.
Jahja R, van Spronsen F, de Sonneville L, van der Meere J, Bosch A, Hollak C, et al.
J Inherit Metab Dis
. 2016 Feb;
39(3):355-362.
PMID: 26914933
Objective: Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it was investigated whether ET-PKU-patients have specific phenylalanine (Phe-)related...