Zobrazeno 1 - 10
of 64
pro vyhledávání: '"J.L. Slooff"'
Autor:
P. M. M. van Erven, Antoon J.M. Janssen, Fons J. M. Gabreëls, J. C. Fischer, J.L. Slooff, M. R. Den Hartog, Wim Ruitenbeek, Willy O. Renier, J. M. F. Trijbels
Publikováno v:
Acta Neurologica Scandinavica. 72:36-42
We studied a 17-year-old girl with subacute necrotizing encephalomyelopathy (Leigh syndrome). Lactate and pyruvate levels were increased in serum and cerebrospinal fluid. The oxidation rates of all substrates tested, i.e. pyruvate in liver, and pyruv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa7242efa514a84b0e51a47fa599ab3d
https://doi.org/10.1111/j.1600-0404.1985.tb01545.x
https://doi.org/10.1111/j.1600-0404.1985.tb01545.x
Publikováno v:
Acta Neurologica Scandinavica. 49:480-494
A family having paramyotonia congenita was observed through following up a few members over a period of 19 years. The natural history of the syndrome is outlined. This bears out the character of the disease as an entity fully independent of other myo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72c42f1c50d34f7d8426eb82eb45708
https://doi.org/10.1111/j.1600-0404.1973.tb01321.x
https://doi.org/10.1111/j.1600-0404.1973.tb01321.x
Publikováno v:
European Journal of Radiology. 16:180-182
Space-occupying lesions in the spinal cord may be caused by tumors, cavernous vascular malformations, ischemic disease, infections and inflammatory diseases, as in acute disseminating encephalomyelitis, transverse myelitis and acute multiple scleroti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6770e21968bbdd68f0c58de450a7e63d
https://doi.org/10.1016/0720-048x(93)90066-v
https://doi.org/10.1016/0720-048x(93)90066-v
Autor:
J.L. Slooff
Publikováno v:
Clinical Neurology and Neurosurgery. 78:187-195
Summary Two patients are described who survived respectively 33 and 21 years after partial surgical excision of a posterior fossa ependymoma and who at the time of autopsy were proven to harbor persistent tumour tissue in the same location.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbcc177f02e8c440392d82cffcc669c4
https://doi.org/10.1016/s0303-8467(75)80048-5
https://doi.org/10.1016/s0303-8467(75)80048-5
Autor:
Fons J. M. Gabreëls, Antoon J.M. Janssen, M. J. J. Prick, Willy O. Renier, J. A. G. Geelen, J.L. Slooff, J. L. Willems, J. M. F. Trijbels, J. P. de Jager
Publikováno v:
Neuropediatrics. 13:108-111
We present the case history of a boy, who died at the age of 3 1/2 years after a rapidly progressive neurologic disorder, characterized by psychomotor retardation, hypotonia, hemiparesis, seizures and myoclonic contractions. Histopathologic studies s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b77c62c4f8b403f885f23af34dc3ad19
https://doi.org/10.1055/s-2008-1059608
https://doi.org/10.1055/s-2008-1059608
Publikováno v:
Clinical Neurology and Neurosurgery. 84:113-123
In this report we describe a Dutch family with ten cases of X-linked recessive congenital hydrocephalus with a high perinatal mortality. In three cases necropsy has confirmed the diagnosis. In the best documented case the most striking features are a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17f3c5986b1cd390c9be69a079c014c3
https://doi.org/10.1016/0303-8467(82)90064-6
https://doi.org/10.1016/0303-8467(82)90064-6
Autor:
Godfried H.J. Boers, J.L. Slooff, H.C. Schoonderwaldt, H.O.M. Thijssen, B.P.M. Schulte, J.R.M. Cruysberg
Publikováno v:
Clinical Neurology and Neurosurgery. 83:153-162
Recognition of the disease homocystinuria by the neurologist may be of importance as is illustrated in the dramatic case history of a 20 year old woman. Confusion with Marfan's syndrome frequently occurs. The clinical and pathologic anatomical featur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49d2bd401e8b88e1e7dd0d37eab774ff
https://doi.org/10.1016/0303-8467(81)90017-2
https://doi.org/10.1016/0303-8467(81)90017-2
Autor:
J.Th. Planten, S.L. Bonting, W.A. Manschot, J.P.F.M. de Bruijn, P.J.P. van der Werf, J.L. Slooff, J.E.A. van den Heuvel, L.E.M. Valk, Greetje Timmerman, R.M. Broekhuyse
Publikováno v:
Ophthalmologica. 152:I-VI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e16fe66edf21c47402270604851643b3
https://doi.org/10.1159/000305024
https://doi.org/10.1159/000305024
Autor:
Greetje Timmerman, P.J.P. van der Werf, J.L. Slooff, J.P.F.M. de Bruijn, R.M. Broekhuyse, W.A. Manschot, J.E.A. van den Heuvel, S.L. Bonting, J.Th. Planten, L.E.M. Valk
Publikováno v:
Ophthalmologica. 152:555-562
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8b4d1a9657d0a023399caac5cf17dc9
https://doi.org/10.1159/000305022
https://doi.org/10.1159/000305022
Autor:
M. J. J. Prick, Antoon J.M. Janssen, Fons J. M. Gabreëls, H. H. J. Jaspar, J.L. Slooff, Willy O. Renier, J. M. F. Trijbels
Publikováno v:
Acta neurologica Scandinavica. 70(3)
We will present 8 children with progressive infantile or juvenile poliodystrophy (Alpers' disease), associated with a defect in pyruvate metabolism. Laboratory studies showed elevated levels of lactate in CSF and, in 4 children, elevated levels in se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e57fd1c3cdd0883857dabce599ad5a21
https://pubmed.ncbi.nlm.nih.gov/6439001
https://pubmed.ncbi.nlm.nih.gov/6439001