Minke H de Ru

Minke H de Ru

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15
Publications
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Publications

Publications (15)
Article
This study aimed to explore Fabry disease (FD) patients' experiences with the timing of their diagnosis and identify important patient-oriented themes relevant to discussions about the need for newborn screening (NBS) for this disorder. Thirty FD patients (13 males) were included in a qualitative study involving semi-structured interviews. The inte...
Article
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 extensive, severe and progressive disease. Disease modifying therapy is available for three of the MPSs and is being developed for the o...
Article
Full-text available
Introduction: Mucopolysaccharidosis type I (MPS I) results in a defective breakdown of the glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, which leads to a progressive disease. Enzyme replacement therapy (ERT) results in clearance of these GAGs from a range of tissues and can significantly ameliorate several symptoms. The biochemic...
Article
Introduction: Newborn screening (NBS) techniques have been developed for several lysosomal storage disorders (LSDs), including Mucopolysaccharidosis type I (MPS I). MPS I is an LSD with a wide phenotypic spectrum that ranges from the severe Hurler phenotype to the attenuated Scheie phenotype. To improve the ethical discussion about NBS for MPS I,...
Article
Full-text available
Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I-S) phenotype. However, there are no clear criteria for delineating the different phenotypes. Because decisions about optimal treatment (enzy...
Article
De ziekte van Gaucher is een zeldzame autosomaal recessief erfelijke lysosomale stapelingsziekte die wordt veroorzaakt door deficiëntie van het lysosomale enzym glucocerebrosidase. Klinische verschijnselen treden op door stapeling van glucosylceramide, het natuurlijk substraat van het deficiënte enzym. De ziekte kent drie varianten: Gaucher type 1...
Article
Full-text available
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum is very broad and varies from the severe Hurler phenotype (MPS I-H) which is characterized by early and progressive central nervous system (CNS) involvement to...
Article
De ziekte van Gaucher is een autosomaal recessief erfelijke lysosomale stapelingsziekte die wordt veroorzaakt door een deficiëntie van het lysosomale enzym glucocerebrosidase. Dit enzym katalyseert de afbraak van glucosylceramide, een glycosfingolipide. Glycosfingolipiden zijn aan koolhydraten gekoppelde vetten die een belangrijk bestanddeel vormen...
Article
To describe the prevalence of somatic and psychiatric co-morbidity in children diagnosed with ADHD and other behavioural problems compared to this prevalence in children seen at the outpatient department without either of these conditions. A retrospective controlled case study was conducted in 369 children. All children with ADHD were diagnosed by...
Article
Full-text available
Short stature as well as tall stature can have a wide variety of causes. Tall stature is usually experienced as a less important problem than short stature, but for both clinical presentations it is important to make a correct diagnosis as to etiology. The identification of the diagnosis frequently relies on radiological criteria. However, no inter...
Article
We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and...
Article
The presentation of sonographic and perinatal findings of tetrasomy 9p. Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was termina...

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