Zobrazeno 1 - 9 of 9 pro vyhledávání: '"L. J. van der Giessen"'
1
Akademický článek
Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa
Autor: J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout, H. H. Huidekoper
Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now availab
Externí odkaz: https://doaj.org/article/8c57c49f00064c658440a8768520074c
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2
Akademický článek
Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients
Autor: J. J. A. van den Dorpel, E. Poelman, L. Harlaar, H. A. van Kooten, L. J. van der Giessen, P. A. van Doorn, A. T. van der Ploeg, J. M. P. van den Hout, N. A. M. E. van der Beek
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit distal muscle weakne
Externí odkaz: https://doaj.org/article/271819d21b264ee4ac3cfc5060e9e962
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3
Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients
Autor: Esther Poelman, A.T. van der Ploeg, J. M. P. van den Hout, L. J. van der Giessen, J. van den Dorpel, N.A.M.E. van der Beek, L. Harlaar, P.A. van Doorn, H. A. van Kooten
Publikováno v: Orphanet Journal of Rare Diseases, 15(1):247. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases
Background Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit distal muscle weakness at an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326be033ab928243efcbdb890524b2a8
https://pure.eur.nl/en/publications/ba162367-65ef-42bb-8306-31bcfb409449
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7
Recombinant human DNase nebulisation in children with cystic fibrosis: before bedtime or after waking up?
Autor: Rik Gosselink, Harm A.W.M. Tiddens, L J van der Giessen, Wim C. J. Hop
Publikováno v: European Respiratory Journal, 30(4), 763-768. European Respiratory Society
The present study focused on patients with cystic fibrosis (CF), who were on maintenance therapy with recombinant human deoxyribonuclease (rhDNase), with the aim of comparing efficacy and possible side effects of nebulisation of rhDNase when taken be
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146b8c49d5e169373e14cb4de3119fde
https://doi.org/10.1183/09031936.00031107
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8
Validation of beighton score and prevalence of connective tissue signs in 773 Dutch children
Autor: L J, van der Giessen, D, Liekens, K J, Rutgers, A, Hartman, P G, Mulder, A P, Oranje
Publikováno v: The Journal of rheumatology. 28(12)
Validation of the Beighton Score and the prevalence of connective tissue signs were investigated in Dutch children.Hypermobility investigation according to Beighton was undertaken in 773 healthy children aged 4-12 years. An inventory of the signs tha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b4a80ca44048d5c17ab9da3d29201dd8
https://pubmed.ncbi.nlm.nih.gov/11764224
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