Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Pathofysiologisch onderzoek bij het Sjögren-Larsson syndroom"'
Autor:
Jan J. Rotteveel, Jan G.N. de Jong, Ronald J.A. Wanders, Ertan Mayatepek, Peter H. M. F. Van Domburg, Michèl A.A.P. Willemsen
Publikováno v:
Journal of pediatrics, 136(2), 258-260. Mosby Inc.
Journal of Pediatrics, 136, 258-260
Journal of Pediatrics, 136, 2, pp. 258-260
Journal of Pediatrics, 136, 258-260
Journal of Pediatrics, 136, 2, pp. 258-260
In 6 patients with Sjogren-Larsson syndrome (SLS), the urinary excretion of leukotriene B 4 (LTB 4 ) and ω-hydroxy-LTB 4 was found to be highly elevated, whereas ω-carboxy-LTB 4 was absent. This abnormal pattern of urinary excretion of LTB 4 and it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dfd0cc55e4661d60fbfa6e4235cf9bc
https://doi.org/10.1016/s0022-3476(00)70113-2
https://doi.org/10.1016/s0022-3476(00)70113-2
Autor:
Michèl A.A.P. Willemsen, Fons J. M. Gabreëls, Jan J. Rotteveel, Rob C.A. Sengers, Ertan Mayatepek, P.H.M.F. van Domburg
Publikováno v:
Neuropediatrics, 30, 325-327
Neuropediatrics, 30, pp. 325-327
Neuropediatrics, 30, pp. 325-327
Sjögren-Larsson syndrome (SLS) was originally described as a triad of spasticity, mental retardation and congenital ichthyosis. The syndrome reflects an underlying deficiency of microsomal fatty aldehyde dehydrogenase (FALDH). We report on clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1da1e55061ccfdd833fa642bcd6a37f9
https://hdl.handle.net/2066/139381
https://hdl.handle.net/2066/139381
Autor:
P.H.M.F. van Domburg, Jan J. Rotteveel, J.G.N. de Jong, Ronald J.A. Wanders, Michèl A.A.P. Willemsen, Ertan Mayatepek
Publikováno v:
Journal of pediatrics, 136(2). Mosby Inc.
Journal of Pediatrics, 136, 2, pp. 261
Journal of Pediatrics, 136, 261
Journal of Pediatrics, 136, 2, pp. 261
Journal of Pediatrics, 136, 261
Sjogren-Larsson syndrome (SLS) is a rare disorder with an autosomal recessive mode of inheritance. The three cardinal clinical signs are mental retardation, congenital ichthyosis and spastic diplegia or tetraplegia. The ichthyosis is seen at birth an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9466e8a240a2c6a5368cab742c37ee10
https://pubmed.ncbi.nlm.nih.gov/10657838
https://pubmed.ncbi.nlm.nih.gov/10657838
Autor:
August F. Deutman, Peter H. M. F. Van Domburg, Albert L. Aandekerk, Johannes R.M. Cruysberg, Michèl A.A.P. Willemsen, Jan J. Rotteveel
Publikováno v:
American Journal of Ophthalmology, 130, 6, pp. 782-789
American Journal of Ophthalmology, 130, 782-789
American Journal of Ophthalmology, 130, 782-789
PURPOSE: To report the ocular manifestations associated with the Sjogren-Larsson syndrome in a series of patients with proven fatty aldehyde dehydrogenase deficiency. To emphasize the clinical importance of the ophthalmological features of the Sjogre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41198190752f08dfb29d6827245e303d
https://hdl.handle.net/2066/139369
https://hdl.handle.net/2066/139369
Autor:
Ertan Mayatepek, Peter M. Steijlen, Arend Heerschap, Michèl A.A.P. Willemsen, Jan J. Rotteveel
Publikováno v:
Neuropediatrics, 31, pp. 1-3
Neuropediatrics, 31, 1-3
Neuropediatrics, 31, 1-3
The Sjogren-Larsson syndrome (SLS) is a severe neurocutaneous disorder due to fatty aldehyde dehydrogenase (FALDH) deficiency. The recent discovery of the role of FALDH in the degradation of leukotriene B4 (LTB4) opened the way to the development of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c3882a92bf4aef75c26a66a16de7e7
https://hdl.handle.net/2066/139364
https://hdl.handle.net/2066/139364
Publikováno v:
Dermatology (Basel, Switzerland), 199(2), 187-188. S. Karger AG
Dermatology, 199, 187-187
Dermatology, 199, pp. 187-187
Dermatology, 199, 187-187
Dermatology, 199, pp. 187-187
Item does not contain fulltext 1 p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a6dcd3eca4deed8d094b9d48aac75fe
https://pubmed.ncbi.nlm.nih.gov/10559596
https://pubmed.ncbi.nlm.nih.gov/10559596
Autor:
Arend Heerschap, Peter M. Steijlen, Fons J. M. Gabreëls, Jan J. Rotteveel, Michèl A.A.P. Willemsen, J.G.N. de Jong, P.H.M.F. van Domburg, R. J. A. Wanders, Johannes R.M. Cruysberg, H.O. M. Thijssen
Publikováno v:
Neurology, 52, 1345-1352
Neurology, 52, pp. 1345-1352
Neurology, 52, pp. 1345-1352
Objective: To determine the spectrum of clinical and MRI/1H MRS features of patients with fatty aldehyde dehydrogenase (FALDH) deficiency.Background: The Sjögren–Larsson syndrome (SLS) was originally defined as a clinical triad consisting of ichth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7142a0667327c900ca7fa5d1ef6db46f
https://doi.org/10.1212/WNL.52.7.1345
https://doi.org/10.1212/WNL.52.7.1345
Autor:
Michiel A. van Werkhoven, Jan J. Rotteveel, Jan G.N. de Jong, Ronald J.A. Wanders, Peter M. Steijlen, Lodewijk IJlst, Michèl A.A.P. Willemsen
Publikováno v:
Journal of Investigative Dermatology, 112, pp. 827-828
Journal of investigative dermatology, 112(5), 827-828. Nature Publishing Group
Journal of Investigative Dermatology, 112, 827-828
Journal of investigative dermatology, 112(5), 827-828. Nature Publishing Group
Journal of Investigative Dermatology, 112, 827-828
To the Editor:The Sjo¨gren–Larsson syndrome (SLS; McKusick no. 270200)is an autosomal-recessively inherited neurocutaneous disordercharacterized by the clinical triad of (congenital) ichthyosis,spastic diplegia, and mental retardation. Glistening
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcbad2e4096bc11a908e9f09a9acc081
https://hdl.handle.net/2066/139374
https://hdl.handle.net/2066/139374