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F A Wijburg

Explore the profile of F A Wijburg including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 108
Citations 1883
Followers 0
Related Specialties
Pediatrics
General Medicine
Endocrinology
Top 10 Co-Authors
R J Wanders
C E M Hollak
R J A Wanders
P G Barth
M Duran
W Ruitenbeek
R B Schutgens
P A Bolhuis
G E Linthorst
L IJlst
Published In
J Inherit Metab Dis
Mol Genet Metab
Ned Tijdschr Geneeskd
Eur J Pediatr
Clin Genet
Affiliations
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Recent Articles
1.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
Muller A, den Hollander B, van de Ven P, Roes K, Geertjens L, Bruining H, et al.
BMC Psychiatry . 2024 Jan; 24(1):23. PMID: 38177999
Background: Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disorder or attention-deficit hyperactivity disorder....
2.
Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial
Conijn T, de Roos C, Vreugdenhil H, Van Dijk-Lokkart E, Wijburg F, Haverman L
Orphanet J Rare Dis . 2022 Sep; 17(1):328. PMID: 36056362
Background: Parents of children with a rare progressive life-limiting illness are at risk for parental posttraumatic stress disorder (PTSD). Studies on the treatment of parental PTSD with eye movement and...
3.
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression
van der Veen S, Korver S, Hirsch A, Hollak C, Wijburg F, Brands M, et al.
Mol Genet Metab . 2022 Jan; 135(2):163-169. PMID: 35033446
Background: Enzyme replacement therapy (ERT) slows disease progression of Fabry disease (FD), especially when initiated before the onset of irreversible organ damage. However, with the clinically asymptomatic progression of renal,...
4.
Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials
Muller A, Zinkstok J, Rommelse N, van de Ven P, Roes K, Wijburg F, et al.
Orphanet J Rare Dis . 2021 Sep; 16(1):380. PMID: 34496899
Background: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe behavioural and sleep disturbances. Often, patients with SMS are diagnosed with attention-deficit/hyperactivity disorder (ADHD)....
5.
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature
Voorink-Moret M, Goorden S, van Kuilenburg A, Wijburg F, Ghauharali-van der Vlugt J, Beers-Stet F, et al.
Mol Genet Metab . 2018 Jan; 123(2):76-84. PMID: 29290526
Background: In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and genetic studies. New UPLC-MS/MS methods...
6.
High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB
Meijer O, van den Biggelaar P, Ofman R, Wijburg F, van Vlies N
JIMD Rep . 2017 Aug; 39:97-106. PMID: 28836185
Background: In the severe neurodegenerative disorder mucopolysaccharidosis type IIIB (MPSIIIB or Sanfilippo disease type B), deficiency of the lysosomal enzyme N-acetyl-α-glucosaminidase (NAGLU) results in accumulation of heparan sulfate. Patients present...
7.
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature
Meijer O, Te Brinke H, Ofman R, IJlst L, Wijburg F, van Vlies N
Mol Genet Metab . 2017 Jul; 122(1-2):100-106. PMID: 28751108
Background: The autosomal recessive, neurodegenerative disorder mucopolysaccharidosis type IIIB (MPSIIIB) is caused by a deficiency of the lysosomal enzyme N-acetyl-α-glucosaminidase (NAGLU), resulting in accumulation of heparan sulfate. The disease spectrum...
8.
Hearing loss in children with Fabry disease
Suntjens E, Dreschler W, Hess-Erga J, Skrunes R, Wijburg F, Linthorst G, et al.
J Inherit Metab Dis . 2017 Jun; 40(5):725-731. PMID: 28567540
Background: Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on...
9.
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
Meijer O, Welling L, Valstar M, Hoefsloot L, Bruggenwirth H, van der Ploeg A, et al.
J Inherit Metab Dis . 2016 Feb; 39(3):437-445. PMID: 26907177
Background: Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare genetic disorder in which the deficiency of the lysosomal enzyme N-acetyl-α-glucosaminidase (NAGLU) results in the accumulation of heparan sulfate (HS), leading...
10.
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)
de Ruijter J, Broere L, Mulder M, van der Ploeg A, Rubio-Gozalbo M, Wortmann S, et al.
J Inherit Metab Dis . 2013 Nov; 37(3):447-54. PMID: 24173409
Background: Mucopolysaccharidosis III (MPS III), known as Sanfilippo disease, is a lysosomal storage disorder mainly characterized by progressive neurodegeneration with cognitive decline and relatively attenuated somatic signs and symptoms. Although...