Zobrazeno 1 - 10 of 28 pro vyhledávání: '"Ragnhild Kornfält"'
1
Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I
Autor: Lars Holmberg, Charlotta Schaedel, L Lannefors, A M Andersson, A C Kristoffersson, Ragnhild Kornfält
Publikováno v: Clinical Genetics. 53:383-386
In this study of cystic fibrosis (CF) gene mutations in Southern Sweden we found missense mutations in 12 out of 110 patients. These patients, as a group, differed from deltaF508 homozygotes by a higher frequency of pancreatic sufficiency and an olde
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88380a244277282962876e733efcb3db
https://doi.org/10.1111/j.1399-0004.1998.tb02750.x
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2
Evaluation of screening procedures for congenital cataracts*
Autor: Magnus P. Borres, Klara Thiringer, Anna Lundvall, Mats Abrahamsson, Johan Sjöstrand, U. Broberger, Nina Nelson, U Kugelberg, E Maly, Ragnhild Kornfält, Lena Hellström-Westas, Peter Jakobsson, Kristina Tornqvist, B Andreasson, Gunilla Magnusson
Publikováno v: Acta Paediatrica. 92:1468-1473
To evaluate the efficacy of two different Swedish screening procedures for early detection of congenital cataracts in comparison with no screening.Children born between January 1992 and December 1998 in Swedish regions with an established eye-screeni
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fb3cd8cb090926d9b3581415fddd24a
https://doi.org/10.1111/j.1651-2227.2003.tb00833.x
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4
Predictors of deterioration of lung function in cystic fibrosis*
Autor: Marie Johannesson, Andreas Lindblad, I de Monestrol, Birgitta Strandvik, Lena Hjelte, Lars Wahlgren, Lars Holmberg, Charlotta Schaedel, Ragnhild Kornfält
Publikováno v: Pediatric Pulmonology. 33:483-491
The severity of lung disease in cystic fibrosis (CF) may be related to the type of mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and to environmental and immunological factors. Since pulmonary disease is the main de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef05087a7ecefc04f9286a6e8a33562c
https://doi.org/10.1002/ppul.10100
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5
Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden
Autor: H Kollberg, Ragnhild Kornfält, Lars Holmberg, Charlotta Schaedel, Lena Hjelte, Marie Johannesson, I de Monestrol
Publikováno v: Clinical Genetics. 56:318-322
Children with cystic fibrosis (CF) diagnosed by neonatal screening have a better nutritional development and other advantages compared with those in a nonscreened group. The two-tier immunoreactive trypsinogen (IRT)/DNA screening protocol has been fo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d18338a4e589092be13bc25c023f735d
https://doi.org/10.1034/j.1399-0004.1999.560410.x
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6
Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type I pseudohypoaldosteronism
Autor: Charlotta Schaedel, U Westgren, M Aili, D Andersson, L Marthinsen, Ragnhild Kornfält
Publikováno v: Acta Paediatrica. 87:472-474
We report a child with multiple target organ pseudohypoaldosteronism type 1 with frequent recurrent pulmonary infections caused by Pseudomonas aeruginosa and Pasteurella multocida and high levels of chloride in sweat, urine and nasal secretion. Repet
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c0a2ae2ab6e2d5ac36a1d02a3726e638
https://doi.org/10.1111/j.1651-2227.1998.tb01483.x
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7
Quality in Child Healthcare: The Views of Mothers and Public Health Nurses
Autor: Åke Isacsson, Ragnhild Kornfält, Lars H Lindholm, Annkristin Jansson
Publikováno v: Scandinavian Journal of Caring Sciences. 12:195-204
In child health promotion (CHP) programmes it is the public health nurse who is responsible for most of the work. However, the perspectives of the family and the staff must be identified in order to get a comprehensive picture of significant quality
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06afc7ba0fc91cea21bdcba58e2a9c9
https://doi.org/10.1080/02839319850162805
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9
Gender affects self-evaluation in children with cystic fibrosis and their healthy siblings
Autor: Inga-Lill, Wennström, Ulla, Berg, Ragnhild, Kornfält, Olof, Rydén
Publikováno v: Acta paediatrica (Oslo, Norway : 1992). 94(9)
To determine whether self-esteem among children with cystic fibrosis (CF) and their healthy siblings differs from that of a healthy reference group and whether there are differences within and between sibling pairs.All Swedish CF children 6-14 y old
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cb18a8c5e8ba7b723a819d1465bf2512
https://pubmed.ncbi.nlm.nih.gov/16278999
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