J J van de Kamp
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Explore the profile of J J van de Kamp including associated specialties, affiliations and a list of published articles.
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55
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Recent Articles
1.
Weber B, Guo X, Kleijer W, van de Kamp J, Poorthuis B, Hopwood J
Eur J Hum Genet
. 1999 Mar;
7(1):34-44.
PMID: 10094189
Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes...
2.
Weber B, van de Kamp J, Kleijer W, Guo X, Blanch L, van Diggelen O, et al.
J Inherit Metab Dis
. 1998 Aug;
21(4):416-22.
PMID: 9700599
We have identified a common mutation (R245H) in the sulphamidase gene of Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA, MPS IIIA) patients from The Netherlands. Allele-specific oligonucleotide hybridization was used...
3.
Landsmeer-Beker E, Massa G, van de Kamp J, Papapoulos S
Eur J Pediatr
. 1997 Nov;
156(10):792-4.
PMID: 9365071
Unlabelled: Osteoporosis is an important feature of osteogenesis imperfecta (OI). So far, no effective medical treatment is available. We treated three boys with severe OI type III and vertebral deformities...
4.
Oosterwijk J, Mesker W, Ouwerkerk M, Knepfle C, van der Burg M, Wiesmeijer C, et al.
Early Hum Dev
. 1996 Dec;
47 Suppl:S95-7.
PMID: 9031851
No abstract available.
5.
van der Steenstraten I, Tibben A, Roos R, van de Kamp J, Niermeijer M
Am J Hum Genet
. 1994 Oct;
55(4):618-25.
PMID: 7942839
Attitudes toward predictive testing programs, in individuals who choose not to undertake the test (i.e., nonparticipants), may be influenced by fears of an unfavorable result. The reasons not to participate...
6.
Tibben A, Duivenvoorden H, Niermeijer M, Frets P, van de Kamp J, Roos R, et al.
Am J Med Genet
. 1993 Oct;
48(3):137-44.
PMID: 8291567
Unlabelled: In the Dutch presymptomatic DNA-testing program for Huntington disease (HD), 29 individuals with increased risk and 44 with decreased risk were followed-up 6 months after test results. A prognostic...
7.
Tibben A, Frets P, van de Kamp J, Niermeijer M, Vegtervan der Vlis M, Roos R, et al.
Am J Med Genet
. 1993 Jul;
48(2):103-11.
PMID: 8362926
We have studied the 6-month follow-up attitudes of 63 individuals, after predictive testing for Huntington disease (HD). Reducing uncertainty (81%) and family planning (60%) were the major reasons for taking...
8.
Tibben A, Frets P, van de Kamp J, Niermeijer M, Roos R, van Ommen G, et al.
Am J Med Genet
. 1993 May;
48(1):10-6.
PMID: 8357031
We studied the baseline attitudes, prior to testing, of 70 applicants at risk for Huntington disease (HD) and their partners in the Dutch presymptomatic DNA-testing program. Two thirds of the...
9.
Maat-Kievit J, Oepkes D, Hartwig N, Vermeij-Keers C, van Kamp I, van de Kamp J
Prenat Diagn
. 1993 May;
13(5):377-84.
PMID: 8341636
The facial tumour described here is the first reported case of a large retinoblastoma detected early in pregnancy and adds another item to the differential diagnosis of facial tumours visualized...
10.
Thomassen R, Tibben A, Niermeijer M, van der Does E, van de Kamp J, Verhage F
Clin Genet
. 1993 Feb;
43(2):63-8.
PMID: 8448902
The attitudes of 1020 Dutch GP's towards presymptomatic and prenatal testing for Huntington disease (HD) were studied by means of a postal questionnaire. The questionnaire contained questions about: approval of...