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Jessica de Ruijter

Explore the profile of Jessica de Ruijter including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 179
Followers 0
Related Specialties
Endocrinology
General Medicine
Neurology
Top 10 Co-Authors
Frits A Wijburg
Fiona Heap
Jan Pieter Marchal
Evelien Tump
Stewart Rust
Simon A Jones
Lodewijk Ijlst
Tom Wagemans
Willem M van der Wal
Marjolein Bosma
Published In
Mol Genet Metab
Ned Tijdschr Geneeskd
PLoS One
Ann Neurol
Affiliations
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Recent Articles
1.
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
Wijburg F, Heap F, Rust S, de Ruijter J, Tump E, Marchal J, et al.
Mol Genet Metab . 2021 Oct; 134(4):317-322. PMID: 34600820
Introduction: Currently, there is no effective therapy for mucopolysaccharidosis IIIA (MPS IIIA). Intravenously-administered enzyme replacement therapies, while effective in other forms of MPS without neurological involvement, have not been successful...
2.
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA
Jones S, Breen C, Heap F, Rust S, de Ruijter J, Tump E, et al.
Mol Genet Metab . 2016 May; 118(3):198-205. PMID: 27211612
Objective: This was an open-label, phase 1/2 dose-escalation, safety trial of intrathecal recombinant human heparan-N-sulfatase (rhHNS) administered via intrathecal drug delivery device (IDDD) for treating mucopolysaccharidosis IIIA (NCT01155778). Study Design:...
3.
High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study
de Ruijter J, Maas M, Janssen A, Wijburg F
Mol Genet Metab . 2013 Apr; 109(1):49-53. PMID: 23541797
Background: Sanfilippo disease, or Mucopolysaccharidosis type III (MPS III), is a lysosomal storage disorder and a member of the mucopolysaccharidoses (MPSs). MPS III is clinically characterized by progressive neurodegeneration. Skeletal...
4.
The intestine plays a substantial role in human vitamin B6 metabolism: a Caco-2 cell model
Albersen M, Bosma M, Knoers N, de Ruiter B, Diekman E, de Ruijter J, et al.
PLoS One . 2013 Jan; 8(1):e54113. PMID: 23342087
Background: Vitamin B6 is present in various forms (vitamers) in the diet that need to be metabolized to pyridoxal phosphate (PLP), the active cofactor form of vitamin B6. In literature,...
5.
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III
de Ruijter J, de Ru M, Wagemans T, Ijlst L, Lund A, Orchard P, et al.
Mol Genet Metab . 2012 Oct; 107(4):705-10. PMID: 23084433
Introduction: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders (LSDs) caused by a defect in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in MPS patients results in...
6.
Genistein in Sanfilippo disease: a randomized controlled crossover trial
de Ruijter J, Valstar M, Narajczyk M, Wegrzyn G, Kulik W, Ijlst L, et al.
Ann Neurol . 2012 Jan; 71(1):110-20. PMID: 22275257
Objective: Sanfilippo disease (mucopolysaccharidosis type III [MPS III]) is a rare neurodegenerative metabolic disease caused by a deficiency of 1 of the 4 enzymes involved in the degradation of heparan...
7.
[Tick-borne encephalitis after a holiday in Southern Germany]
de Vries A, de Ruijter J, de Mendonca Melo M, Wismans P, Vroon H, van Genderen P
Ned Tijdschr Geneeskd . 2010 Jan; 153:A950. PMID: 20051165
A 56-year-old man was admitted to hospital with complaints of headache, fever and photophobia, 3 weeks after being bitten by ticks in Southern Germany. Two weeks before admission he had...