Zobrazeno 1 - 10 of 46 pro vyhledávání: '"C E M, Hollak"'
2
Cognitive Profile and Mental Health in Adult Phenylketonuria
Autor: Annet M. Bosch, Ans T. van der Ploeg, Martijn C. G. J. Brouwers, Mirian C. H. Janssen, Rianne Jahja, Leo M. J. de Sonneville, C. E. M. Hollak, Stephan C. J. Huijbregts, Janneke G. Langendonk, Jaap van der Meere, Floris C. Hofstede, Amanda M. Legemaat, Maaike de Vries, M. Estela Rubio-Gozalbo, Francjan J. van Spronsen
Publikováno v: Neuropsychology, 31(4), 437-447. American Psychological Association Inc.
Neuropsychology, 31, 4, pp. 437-447
Neuropsychology, 31(4), 437-447. American Psychological Association
Neuropsychology, 31(4), 437. American Psychological Association Inc.
Neuropsychology, 31(4), 437-447. AMER PSYCHOLOGICAL ASSOC
Neuropsychology, 31, 437-447
Item does not contain fulltext OBJECTIVE: Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenyl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d533cfac5fa9bbc67eae709e647f48b
https://doi.org/10.1037/neu0000358
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3
Bizarre behavior and decreased level of consciousness in an adult patient
Autor: J, van Son, R C, Rietbroek, F M, Vaz, C E M, Hollak
Publikováno v: The Netherlands journal of medicine. 77(1)
This case report presents an adult patient with decreased levels of consciousness and bizarre behavior. A silent delirium was first suspected however, symptoms did not improve and further examination revealed elevated ammonia levels. A hepatic cause
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f56b7071787c2efd0c03e95d55d8b962
https://pubmed.ncbi.nlm.nih.gov/30774101
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4
Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)
Autor: Ashma Krishan, C. E. M. Hollak, Elad Shemesh, Christian J. Hendriksz, Laura Deroma
Publikováno v: Cochrane Database of Systematic Reviews
Cochrane database of systematic reviews (Online), 2018(3):CD012961. John Wiley and Sons Ltd
The Cochrane Library
This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: 1. To assess the effectiveness, safety and appropriate dose regimen of ERT in people with MPS IV A. 2. To determine whether evidence from NRSIs (which potentially
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::912dee16988e0e59a8e6cf0cb9ad2011
http://livrepository.liverpool.ac.uk/3042814/1/CD012961.pdf
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5
Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria
Autor: Stephan C. J. Huijbregts, Lo J. Bour, Jan Booij, Rianne Jahja, T. van Amelsvoort, Nico G.G.M. Abeling, Dorien H. Nieman, Erik Boot, Aart J. Nederveen, Anne S. Bassett, D. van Vliet, Adrianus J. Bakermans, F. J. van Spronsen, C. E. M. Hollak, Annet M. Bosch
Publikováno v: Psychological medicine, 47(16), 2854-2865. Cambridge University Press
Psychological Medicine, 47(16), 2854-2865. Cambridge University Press
BackgroundPhenylketonuria (PKU), a genetic metabolic disorder that is characterized by the inability to convert phenylalanine to tyrosine, leads to severe intellectual disability and other cerebral complications if left untreated. Dietary treatment,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e354bc82b6087539f69b53cef6557f44
https://pubmed.ncbi.nlm.nih.gov/28552082
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6
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance
Autor: M.A. van den Bergh Weerman, W.E.M. Kok, Bouwien E. Smid, R. H. Lekanne Deprez, Sandrine Florquin, Gabor E. Linthorst, C. E. M. Hollak, Ben J. H. M. Poorthuis, Janneke Timmermans
Publikováno v: Clinical Genetics. 88:161-166
Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic val
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::26007ff1fec99c385edb9de2915fb5e6
https://doi.org/10.1111/cge.12449
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7
Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages
Autor: Marcel G. W. Dijkgraaf, Saskia M. Rombach, C. E. M. Hollak, Gabor E. Linthorst, Bouwien E. Smid
Publikováno v: Journal of inherited metabolic disease. 37(3):341-352
Current available evidence on long-term effectiveness of enzyme replacement therapy (ERT) for Fabry disease is limited. More insight is needed whether ERT effectiveness differs in patients with and without baseline end-organ damage. Through a systema
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43bb67446c00515a17f457c325fe818f
https://doi.org/10.1007/s10545-014-9677-8
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8
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group
Autor: Annalisa Sechi, T. Ben Omran, Emma Glamuzina, Robin H. Lachmann, M. Merkel, M. Scarpelli, Janneke G. Langendonk, Mirian C. H. Janssen, Sandra Sirrs, Michel Tchan, C. E. M. Hollak, Fanny Mochel
Publikováno v: Jimd Reports, 27, 85-91
JIMD Reports, 27, 85-91. Springer-Verlag
JIMD Reports ISBN: 9783662504086
JIMD Reports, 85-91
STARTPAGE=85;ENDPAGE=91;TITLE=JIMD Reports
EUR Research Portal
Jimd Reports, 27, pp. 85-91
Item does not contain fulltext BACKGROUND: There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8297a4ac14d563f8a33f12f481951ac
http://hdl.handle.net/2066/171665
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10
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration
Autor: M. van Rijn, M. E. Rubio-Gozalbo, R.G. Janssen-Regelink, H.E.E. Zweers-van Essen, M.R. Heiner-Fokkema, N.A. van der Herberg-van de Wetering, C. C. Boelen, M.C. de Vries, C. E. M. Hollak, G. Venema, Annet M. Bosch, E.M.C. van der Ploeg, F. J. van Spronsen, N.M. Ter Horst, C. Jonkers, F.C. Hofstede, E. C. Carbasius Weber, Mirian C. H. Janssen, Karen Anjema
Publikováno v: Molecular genetics and metabolism, 104(Suppl), S60-S63. Academic Press Inc.
Molecular Genetics and Metabolism, 104 Suppl, pp. S60-3
Molecular Genetics and Metabolism, 104, S60-S63. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 104 Suppl, S60-3
Molecular Genetics and Metabolism, 104, S60-S63. Academic Press Inc.
Item does not contain fulltext BACKGROUND: The 24- and 48-hour tetrahydrobiopterin (BH4) loading test (BLT) performed at a minimum baseline phenylalanine concentration of 400 mumol/l is commonly used to test phenylketonuria patients for BH4 responsiv
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff825ac137c9868dd923afda1cb7bdb7
https://doi.org/10.1016/j.ymgme.2011.09.024
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