Search

Your search keyword '"Niezen, A"' showing total 5 results
Start Over Author "Niezen, A" Journal human genetics
5 results on '"Niezen, A"'

2. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Author

Van Kuilenburg, A. B. P., Vreken, P., Abeling, N. G. G. M., Bakker, H. D., Meinsma, R., Van Lenthe, H., De Abreu, R. A., Smeitink, J. A. M., Kayserili, H., Apak, M. Y., Christensen, E., Holopainen, I., Pulkki, K., Riva, D., Botteon, G., Holme, E., Tulinius, M., Kleijer, W. J., Beemer, F. A., Duran, M., Niezen-Koning, K. E., Smit, G. P. A., Jakobs, C., Smit, L. M. E., Moog, U., Spaapen, L. J. M., and Van Gennip, A. H.

Published
1999
Full Text
View/download PDF

4. Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands

Author

J. W. Kliphuis, K. E. Niezen-Koning, H. de Vries, Hans Scheffer, L.P. ten Kate, Gerrit Smit, and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Subjects
Heterozygote, Genetic Carrier Screening, Genes, Recessive, Heterozygote Detection, Gene, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, law.invention, Acyl-CoA Dehydrogenases, Gene Frequency, law, Genetics, Humans, Genetic Testing, Allele, Allele frequency, Genetics (clinical), Polymerase chain reaction, Netherlands, Gel electrophoresis, biology, Acyl CoA dehydrogenase, Molecular biology, Restriction site, Mutation (genetic algorithm), Mutation, biology.protein
Abstract

The G985A mutation represents about 90% of all medium-chain acyl-CoA dehydrogenase (MCAD) allele mutations that cause the clinical symptoms of MCAD deficiency. The prevalence of carriers varies between different European populations, with high frequencies in the northwestern part of Europe. To determine the prevalence of MCAD carriers with the G985A mutation in The Netherlands, we collected 6195 Guthrie cards of newborns. Mutation detection was performed with the polymerase chain reaction (PCR), in which a NcoI restriction site was created in the presence of a G985A mutation in the PCR product, followed by NcoI digestion, and gel electrophoresis. We detected a G985A carrier frequency of 1 in 59 (95% CI 1/50–1/73) in The Netherlands. The total prevalence of carriers was estimated to be 1 in 55 (95% CI 1/46– 1/68), based on a relative G985A frequency of 94% in The Netherlands.

Published
1996

5. The frequency of lysosomal storage diseases in The Netherlands

Author

J.G.N. de Jong, Ben J. H. M. Poorthuis, Johanna E. M. Groener, O. P. van Diggelen, K. E. Niezen-Koning, W. J. Kleijer, Ron A. Wevers, S. van Weely, Center for Liver, Digestive and Metabolic Diseases (CLDM), Biochemistry, Clinical Genetics, and Other departments

Subjects
Male, Neuromusculaire en neurometabole ziekten, Pediatrics, medicine.medical_specialty, Idursulfase, Inborn errors of metabolism, Disease, Mucopolysaccharidosis type III, Biology, Lipidoses, Lipid storage, Mucolipidoses, Prevalence, medicine, Lysosomal storage disease, Genetics, Humans, Erfelijke stofwisselingsziekten, MUTATION, Genetics (clinical), Netherlands, Sanfilippo syndrome, IDENTIFICATION, Glycogen Storage Disease Type II, Infant, Newborn, Glycogen Storage Disease, medicine.disease, GENE, Lysosomal Storage Diseases, Metachromatic leukodystrophy, Epidemiologic Studies, Immunology, Krabbe disease, Female, medicine.drug
Abstract

We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970-1996. The combined birth prevalence for all LSDs is 14 per 100,000 live births. Glycogenosis type II is the most frequent LSD with a birth prevalence of 2.0 per 100,000 live births, representing 17% of all diagnosed cases. Within the group of lipidoses, metachromatic leukodystrophy (MLD) is the most frequent LSD. MLD was diagnosed in 24% of lipidoses and the calculated birth prevalence was 1.42 per 100,000 for all types combined. Krabbe disease, diagnosed in 17% of cases, also belongs to the more frequent lipid storage diseases in The Netherlands with a birth prevalence of 1.35 per 100,000. The birth prevalence of Gaucher disease, commonly regarded as the most frequent lipid storage disease is 1.16 per 100,000 for all types combined. The combined birth prevalence for all lipid storage diseases is 6.2 per 100,000 live births. Within the group of mucopolysaccharidoses (MPSs), MPS I has the highest calculated birth prevalence of 1.19 per 100,000 (25% of all cases of MPS diagnosed), which is slightly more frequent than MPS IIIA with an estimated birth prevalence of 1.16 per 100,000. As a group, MPS III comprises 47% of all MPS cases diagnosed and the combined birth prevalence is 1.89 per 100,000 live births. The birth prevalence of MPS II is 0.67 per 100,000 (1.30 per 100,000 male live births). All other MPSs are rare. The combined birth prevalence for all MPSs is 4.5 per 100,000 live births. Mucolipidoses and oligosaccharidoses are very rare with birth prevalences between 0.04 and 0.20 for individual diseases. Only 49 cases were diagnosed between 1970 and 1996. Their combined birth prevalence is 1.0 per 100,000 live births.

Published
1999

Catalog

Books, media, physical & digital resources
See catalog results