Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group

Autor: Christoumanou, H., Vanier, M. T., Santambrogio, P., Arosio, Paolo, Kleijer, W. J., Harzer, K.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3662::4b01cee9768e55f1c14c0c2317b07219
http://hdl.handle.net/11379/48323

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

Autor: Ligtenberg, M. J. L., Stephan Kemp, Sarde, C. -O, Geel, B. M., Kleijer, W. J., Barth, P. G., Mandel, J. -L, Oost, B. A., Bolhuis, P. A.

Publikováno v: American Journal of Human Genetics, 56, pp. 44-50
American Journal of Human Genetics, 56, 1, pp. 44-50
Scopus-Elsevier
American journal of human genetics, 56(1), 44-50. Cell Press
American Journal of Human Genetics, 56, 44-50

X-linked adrenoleukodystrophy (ALD) has been associated with mutations in a gene encoding an ATP-binding transporter, which is located in the peroxisomal membrane. Deficiency of the gene leads to impaired peroxisomal beta-oxidation. Systematic analys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1af399f144b848be87aba48b97610c19
https://hdl.handle.net/2066/173869

Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC

Autor: Jacek Zaremba, Kleijer, W. J., Huijmans, J. G. M., Poorthuis, B., Fidzianska, E., Glogowska, I.

Publikováno v: Journal of medical genetics, 29(7). BMJ Publishing Group
Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d0a9e8dd2fe7937e4fc7da55fe8be201
https://pure.amc.nl/en/publications/chromosomes-14-and-21-as-possible-candidates-for-mapping-the-gene-for-sanfilippo-disease-type-iiic(e62d8581-83bd-4704-8468-a7813f6a8d30).html

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay.

Autor: Keulemans, J. L. M., Sinigerska, I., Garritsen, V. H., Huijmans, J. G. M., Voznyi, Y. V., van Diggelen, O. P., Kleijer, W. J.

Publikováno v: Prenatal Diagnosis; Nov2002, Vol. 22 Issue 11, p1016-1021, 6p

In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency.

Autor: Den Hollander, N. S., Kleijer, W. J., Schoonderwaldt, E. M., Los, F. J., Wladimiroff, J. W., Niermeijer, M. F.

Publikováno v: Ultrasound in Obstetrics & Gynecology; Jul2000, Vol. 16 Issue 1, p87-90, 4p