Zobrazeno 1 - 10
of 180
pro vyhledávání: '"Poorthuis, B."'
Autor:
Langereis, E. J., van den Berg, I. E. T., Halley, D. J. J., Poorthuis, B. J. H. M., Vaz, F. M., Wokke, J. H. J., Linthorst, G. E.
Publikováno v:
JIMD reports, 9, 117-120. Springer Berlin
Introduction: Recent studies have indicated that a proportion of patients with renal failure, left ventricular hypertrophy, or cryptogenic stroke have sequence variants in their aGal A gene (Fabry disease), which has resulted in an increase in diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::7e32dc9777883bbcfd19c2232d817dd3
https://pure.amc.nl/en/publications/considering-fabry-but-diagnosing-mps-i-difficulties-in-the-diagnostic-process(243d7fe3-7bda-4e7a-9e98-2b1b956ee91b).html
https://pure.amc.nl/en/publications/considering-fabry-but-diagnosing-mps-i-difficulties-in-the-diagnostic-process(243d7fe3-7bda-4e7a-9e98-2b1b956ee91b).html
Publikováno v:
Tijdschrift voor kindergeneeskunde, 78(2), 77-80. Bohn Stafleu van Loghum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::7ce84e1e78fe88dd80fbc10c49767312
https://pure.amc.nl/en/publications/langdurige-neonatale-icterus-met-later-ataxie-verticale-blikparese-en-progressieve-mentale-achteruitgang-de-ziekte-van-niemannpick-type-c(79d183ec-1146-4c7e-91cb-5ec4a115f6fd).html
https://pure.amc.nl/en/publications/langdurige-neonatale-icterus-met-later-ataxie-verticale-blikparese-en-progressieve-mentale-achteruitgang-de-ziekte-van-niemannpick-type-c(79d183ec-1146-4c7e-91cb-5ec4a115f6fd).html
Autor:
Wanders, R. J. A., Poorthuis, B. J. H. M., Rodenburg, R. J. T., Hoffmann, G. F., Zschocke, J., Nyhan, W. L.
Publikováno v:
Inherited Metabolic Diseases, 283-303
STARTPAGE=283;ENDPAGE=303;TITLE=Inherited Metabolic Diseases
STARTPAGE=283;ENDPAGE=303;TITLE=Inherited Metabolic Diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::06422b2e4ecf8d8822b930d1ea0f18f7
https://pure.amc.nl/en/publications/enzymes-metabolic-pathways-flux-control-analysis-and-the-enzymology-of-specific-groups-of-inherited-metabolic-diseases(4ce3ff38-eacb-4ae6-8022-640a21be2f27).html
https://pure.amc.nl/en/publications/enzymes-metabolic-pathways-flux-control-analysis-and-the-enzymology-of-specific-groups-of-inherited-metabolic-diseases(4ce3ff38-eacb-4ae6-8022-640a21be2f27).html
Publikováno v:
Nederlands tijdschrift voor geneeskunde, 152(2), 116-7; author reply 117. Bohn Stafleu van Loghum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::b14399ab19164c496c6cf93917443301
https://pure.amc.nl/en/publications/klinisch-denken-en-beslissen-in-de-praktijk-een-9jarige-jongen-met-een-geisoleerde-splenomegalie(9430dece-11e6-44ee-85b9-f0cb91cbc121).html
https://pure.amc.nl/en/publications/klinisch-denken-en-beslissen-in-de-praktijk-een-9jarige-jongen-met-een-geisoleerde-splenomegalie(9430dece-11e6-44ee-85b9-f0cb91cbc121).html
Akademický článek
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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:
Schrama, A. J., De Beaufort, A. J., Sukul, Y. R., Jansen, S. M., Poorthuis, B. J., Berger, H. M.
Publikováno v:
Acta paediatrica (Oslo, Norway, 90(4), 412-416. Wiley-Blackwell
Atelectasis, a major contributor to pulmonary dysfunction in meconium aspiration syndrome (MAS), is produced by bronchiolar obstruction and surfactant inactivation. It has been shown that substances in meconium, e.g. fatty acids, inhibit surfactant a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::fdb69c086a9d47948009a03e46d50d37
https://pure.amc.nl/en/publications/phospholipase-a2-is-present-in-meconium-and-inhibits-the-activity-of-pulmonary-surfactant-an-in-vitro-study(b9f40117-068f-40f8-acc4-a17eb1347fa1).html
https://pure.amc.nl/en/publications/phospholipase-a2-is-present-in-meconium-and-inhibits-the-activity-of-pulmonary-surfactant-an-in-vitro-study(b9f40117-068f-40f8-acc4-a17eb1347fa1).html
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
De ziekte van Sanfilippo type D bij een 8-jarige jongen; een zeldzame oorzaak van mentale retardatie
Autor:
del Canho, H., van den Bergh, F. A., Duran, M., Hennekam, R. C., Gröniger, A. M., Poorthuis, B. J.
Publikováno v:
Nederlands tijdschrift voor geneeskunde, 137(19), 969-972. Bohn Stafleu van Loghum
This case report describes the history of an 8-year-old boy of full Dutch extraction with mucopolysaccharidosis type III D (Sanfilippo's syndrome type D). Learning problems started at age 5 years; deterioration is only slow at present, and consistent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::bb30621e1991b7e6ede0f129b4fb6ac4
https://pure.amc.nl/en/publications/de-ziekte-van-sanfilippo-type-d-bij-een-8jarige-jongen-een-zeldzame-oorzaak-van-mentale-retardatie(4b6ebb01-7eb0-4323-ba0a-71bb69a431a8).html
https://pure.amc.nl/en/publications/de-ziekte-van-sanfilippo-type-d-bij-een-8jarige-jongen-een-zeldzame-oorzaak-van-mentale-retardatie(4b6ebb01-7eb0-4323-ba0a-71bb69a431a8).html
Akademický článek
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