Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Van Hove, J L"'
Publikováno v:
Bulletin de la Societe belge d ophtalmologie, 2002(286), 19-24. Societe Belge d'Ophtalmologie
Mucolipidosis III (Pseudo-Hurler Polydystrophy) is a rare autosomal recessively inherited Hurler-like disease. The ophthalmological findings in these patients include a triad of mild retinopathy, corneal clouding and hyperopic astigmatism. We present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::95590a247dfc83fec85fd28f874084d6
https://pure.amc.nl/en/publications/ophthalmological-findings-in-a-patient-with-mucolipidosis-iii-pseudohurler-polydystrophy-a-case-report(c66332ea-0120-498d-97bb-09dfa9eaab4f).html
https://pure.amc.nl/en/publications/ophthalmological-findings-in-a-patient-with-mucolipidosis-iii-pseudohurler-polydystrophy-a-case-report(c66332ea-0120-498d-97bb-09dfa9eaab4f).html
Autor:
Van Hove, J L, Zhang, W, Kahler, S G, Roe, C R, Chen, Y T, Terada, N, Chace, D H, Iafolla, A K, Ding, J H, Millington, D S
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder of fatty acid catabolism, with autosomal recessive inheritance. The disease is characterized by episodic illness associated with potentially fatal hypoglycemia and has a relat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::18e1097f5fe930317f55b9e22fc8e5a5
https://europepmc.org/articles/PMC1682046/
https://europepmc.org/articles/PMC1682046/
Autor:
Van Hove, J. L. K., Steyaert, J., Matthijs, G., Legius, E., Theys, P., Wevers, R., Romstad, A., Møller, L. B., Hedrich, K., Goriounov, D., Blau, N., Klein, C., Casaer, P.
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Jan2006, Vol. 77 Issue 1, p18-23, 6p, 1 Diagram, 3 Charts, 2 Graphs
Autor:
Grünewald, S., Imbach, T., Huijben, K., Rubio-Gozalbo, M. E., Verrips, A., De Klerk, J. B. C., Stroink, H., De Rijk-Van Andel, J. F., Van Hove, J. L. K., Wendel, U., Matthijs, G., Hennet, T., Jaeken, J., Wevers, R. A.
Publikováno v:
Annals of Neurology; 2000, Vol. 47 Issue 6, p776-781, 6p
Autor:
Kishnani, P., Hove, J., Shoffner, J., Kaufman, A., Bossen, E., Kahler, S., Kishnani, P S, Van Hove, J L, Shoffner, J S, Bossen, E H, Kahler, S G
Publikováno v:
European Journal of Pediatrics; 1996, Vol. 155 Issue 10, p898-903, 6p
Autor:
Buyse G, Mertens L, Di Salvo G, Matthijs I, Weidemann F, Eyskens B, Goossens W, Goemans N, Sutherland GR, Van Hove JLK, Buyse, G, Mertens, L, Di Salvo, G, Matthijs, I, Weidemann, F, Eyskens, B, Goossens, W, Goemans, N, Sutherland, G R, Van Hove, J L K
Publikováno v:
Neurology; 2003 May 27, Vol. 60 Issue 10, p1679-1681, 3p
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America; January 1996, Vol. 93 Issue: 1 p65-70, 6p
Publikováno v:
Journal of Inherited Metabolic Disease; March 1993, Vol. 16 Issue: 2 p361-367, 7p
Publikováno v:
Pediatric Research; January 1994, Vol. 35 Issue: 1 p96-101, 6p
Publikováno v:
Neurology; 2000 Feb 8, Vol. 54 Issue 3, p754-756, 3p