Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Tönne Tonnesen"'
Autor:
Helena Malmgren, Maire-Louise Bondeson, Britt-Marie Carlberg, Niklas Dahl, Wim J. Kleijer, Tönne Tonnesen, Ulf Pettersson
Publikováno v:
Human Molecular Genetics. 4:615-621
We have recently described the identification of a second IDS locus (IDS-2) located within 90 kb telomeric of the IDS gene (Bondeson et al. submitted). Here, we show that this region is involved in a recombination event with the IDS gene in about 13%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34983b2044b29110be532e80c40d0323
https://doi.org/10.1093/hmg/4.4.615
https://doi.org/10.1093/hmg/4.4.615
Autor:
M.-L. Steén-Bondeson, G. Seidlitz, Wim J. Kleijer, Charles P. Morris, Tönne Tonnesen, P. J. Wilson, Ulf Pettersson, John J. Hopwood, Niklas Dahl, Gustavson Kh
Publikováno v:
Scopus-Elsevier
Hunter syndrome or mucopolysaccharidoses type II (MPS-II), is a lysosomal storage disorder caused by a deficiency in the activity of the enzyme iduronate-2-sulphatase (IDS). We have investigated the occurrence of rearrangements and deletions of the I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84eb34bfc1cd3e415ea887e50737cd6
https://doi.org/10.1093/hmg/1.3.195
https://doi.org/10.1093/hmg/1.3.195
Autor:
Peter Propping, Peter Leinekugel, Ernst Conzelmann, Tönne Tonnesen, Michael Rochel, F. Freycon, Joachim Kappler, Alfried Kohlschütter, Wim J. Kleijer
Publikováno v:
Human Genetics. 86
Arylsulfatase A (ASA) is a lysosomal enzyme that hydrolyzes sulfatide. Absence of ASA activity leads to metachromatic leukodystrophy (MLD). The clinical outcome resulting from ASA deficiency is highly variable with respect to age of onset and symptom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daa8485f63adc20d0f363d83e77a0010
https://doi.org/10.1007/bf00194634
https://doi.org/10.1007/bf00194634
Autor:
Marie-Louise Bondeson, Britt-Marie Carlberg, Stanislav L. Karsten, Elena Voskoboeva, Wim J. Kleijer, Ulf Pettersson, Tönne Tonnesen
Publikováno v:
Human Mutation. 12:433-433
Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e511a8a38a237649af6236cb012dd8c8
https://doi.org/10.1002/(sici)1098-1004(1998)12:6<433::aid-humu12>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1998)12:6<433::aid-humu12>3.0.co
Publikováno v:
Human Genetics. 60:167-171
Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66def7d696823a7f52c0e76454b3a151
https://doi.org/10.1007/bf00569706
https://doi.org/10.1007/bf00569706
Autor:
Marie-Louise Bondeson, Ulf Pettersson, Tönne Tonnesen, Kristina Lagerstedt, Britt-Marie Carlberg, Stanislav L. Karsten, Wim J. Kleijer
Publikováno v:
Karolinska Institutet
We have previously shown that patients with the Hunter syndrome frequently have suffered from a recombination event between the IDS gene and its putative pseudogene, IDS-2, resulting in an inversion of the intervening DNA. The inversion, which might
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18b1f30766ec749c68136e829f35758e
http://www.ncbi.nlm.nih.gov/pubmed/9097969
http://www.ncbi.nlm.nih.gov/pubmed/9097969
