Zobrazeno 1 - 10
of 23
pro vyhledávání: '"M. C. B. Loonen"'
Publikováno v:
Developmental Medicine & Child Neurology. 32:707-717
SUMMARY Lissencephaly type I has been described as either the cerebral expression of a complex malformation syndrome such as Miller-Dieker syndrome (MDS), or as isolated lissencephaly sequence (ILS). In a nation-wide study in The Netherlands, of 21 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::548262a7ab4cb246c9b94ae5ab3e384f
https://doi.org/10.1111/j.1469-8749.1990.tb08431.x
https://doi.org/10.1111/j.1469-8749.1990.tb08431.x
Publikováno v:
Clinical Genetics. 9:427-432
Biochemical data are presented of a 29-year-old male, who shows progressive psychomotor retardation and a beta-galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1-gang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3858c3fa979092668504b7ff8e130c9
https://doi.org/10.1111/j.1399-0004.1976.tb02272.x
https://doi.org/10.1111/j.1399-0004.1976.tb02272.x
Autor:
B. Brouwer-Kelder, R. G. Slee, J. F. Koster, J. J. Martin, M. F. Niermeijer, W. Mekes, H. F. M. Busch, M. C. B. Loonen, Joseph M. Tager, AndréW. Schram
Publikováno v:
Clinical Genetics. 19:55-63
In 21 obligate and 9 possible heterozygotes for acid maltase deficiency (AMD) (glycogenosis 2, Pompe's disease), different methods of identifying heterozygotes have been studied. Heterozygosity could not be demonstrated by physical examination, serum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30fc38f6f7039b10167165c20279f0f1
https://doi.org/10.1111/j.1399-0004.1981.tb00668.x
https://doi.org/10.1111/j.1399-0004.1981.tb00668.x
Autor:
W. J. C. Hop, Leon P. F. Winkel, A.T. van der Ploeg, M. C. B. Loonen, M.L.C. Hagemans, A. J. J. Reuser, P.A. van Doorn
Publikováno v:
Brain, 128, 671-677. Oxford University Press
Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf585898c3380f962b69f8405eae116
https://doi.org/10.1093/brain/awh384
https://doi.org/10.1093/brain/awh384
Autor:
Johannes H. Langeveld, Alice A J M Hazebroek-Kampschreur, Jan Passchier, Hans M. Koot, M. C. B. Loonen
Publikováno v:
Cephalalgia. 16:183-196
We developed a generic Quality of Life (QL) measurement scale for adolescents between 12 and 18 years of age, primarily for use on youngsters with chronic headaches or migraine. The Quality of Life Headache in Youth (QLH-Y) is a 71 item (69 multiple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ead9fdc791f171a5eb411c3332ac562
https://doi.org/10.1046/j.1468-2982.1996.1603183.x
https://doi.org/10.1046/j.1468-2982.1996.1603183.x
Publikováno v:
Annals of Neurology. 33:535-539
An X-linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five-generation family is described. The 12 affected boys had early-onset floppiness, ataxia, liability to infections especially of the uppe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9809f325bf7b9ef27b9d3044335e9a5b
https://doi.org/10.1002/ana.410330519
https://doi.org/10.1002/ana.410330519
Publikováno v:
Intracranial Pressure VIII ISBN: 9783642777912
Every new measuring technique for use in human beings requires its own “normal values”. For the purpose of establishing normal values of anterior fontanelle pressure (AFP) with the Rotterdam Teletransducer (RTT) [1] in the fontanelle-adaptor [7]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cba6a75937fe5a3b1db123785d289d3
https://doi.org/10.1007/978-3-642-77789-9_7
https://doi.org/10.1007/978-3-642-77789-9_7
Autor:
P. G. H. Mulder, M. C. B. Loonen, C. J. J. Avezaat, W. C. G. Overweg-Plandsoen, J. H. M. van Eindhoven, D. A. de Jong
Publikováno v:
Intracranial Pressure VIII ISBN: 9783642777912
With the introduction of the lumbar puncture by Quincke [9], one century ago, the possibility of examining the cerebrospinal fluid (CSF) and of measuring the cerebrospinal fluid pressure (CSFP) was born. When continuous recording of intracranial pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4e2fbd24cf66a7d0cc23c47714a9f7e
https://doi.org/10.1007/978-3-642-77789-9_6
https://doi.org/10.1007/978-3-642-77789-9_6
Autor:
Ruben H. Willemsen, Marian A. Kroos, M. C. B. Loonen, Johan F. Koster, A.J.J. Reuser, A.T. van der Ploeg, A. M. M. Van Der Kraaij
Publikováno v:
Pediatric research. 28(4)
Cardiac failure and skeletal muscle weakness are the main clinical features of glycogenosis type II, a lysosomal storage disorder caused by acid α-glucosidase deficiency. In our study, we have investigated in a rat heart perfusion-recirculation syst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4abd8500183f22758011f0cfe91ec3af
https://pubmed.ncbi.nlm.nih.gov/2235132
https://pubmed.ncbi.nlm.nih.gov/2235132
Publikováno v:
Cephalalgia. 15:25-25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab96155e2503a7b1cef2128a6575c228
https://doi.org/10.1177/0333102495015s1622
https://doi.org/10.1177/0333102495015s1622