Zobrazeno 1 - 10
of 43
pro vyhledávání: '"H. K. Harms"'
Publikováno v:
Acta Paediatrica. 91:1065-1072
Phosphomannose isomerase (PMI) deficiency (CDG-Ib) is a newly recognized disorder of mannose and glycoprotein metabolism. PMI deficiency manifests itself mainly as a gastrointestinal disorder with protein-losing enteropathy and life-threatening intes
Autor:
Maurizio Rainisio, S.G. McKenzie, Christian Koch, Margaret E. Hodson, U. Madessani, G Mastella, J Navarro, H K Harms, Birgitta Strandvik
Publikováno v:
Pediatric Pulmonology. 32:343-350
Data derived from a cross-sectional analysis of 7,566 patients stratified into six age groups were used to compare lung function, body mass index (BMI), and weight for age in patients with and without cystic fibrosis-related diabetes mellitus (CFDM).
Autor:
H K Harms, J Navarro, G Mastella, Maurizio Rainisio, Christian Koch, Margaret E. Hodson, Birgitta Strandvik, S.G. McKenzie
Publikováno v:
European Respiratory Journal. 18:298-305
The European Epidemiologic Registry of Cystic Fibrosis began collecting longitudinal data on European cystic fibrosis patients in 1994. A cross-sectional analysis was performed to identify the factors associated with low values of % predicted forced
Autor:
J Navarro, U. Madessani, Christian Koch, S.G. McKenzie, Birgitta Strandvik, H K Harms, Margaret E. Hodson, Maurizio Rainisio, G Mastella, Harry Cuppens
Publikováno v:
Pediatric Pulmonology. 31:1-12
SUMMARY. By August 1997, 11,749 patients with cystic fibrosis had been enrolled in the European Epidemiologic Registry of Cystic Fibrosis (ERCF). Genotype analysis had been performed on 8,963 (76%) of these patients, and the majority had one or two i
Autor:
Hannah Blau, J. Bijman, Frauke Stanke, H. K. Harms, Inez Bronsveld, Thilo Dörk, G. Mastella, Manfred Ballmann, Ulrike Laabs, Margit Ritzka, Burkhard Tümmler, Hans-Georg Posselt, Nico Derichs, Sabina Gallati, H. J. Veeze, Matthias Griese
Publikováno v:
Journal of medical genetics. 45(1)
Background: Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases. Methods: 17 individuals who are homozygous for deletions, missense, s
Autor:
M. O. Henke, Rudolf M. Huber, H. K. Harms, R. Landgraf, R. Fischer, R. M. Bertele-Harms, S. M. Lang
Publikováno v:
Pneumologie (Stuttgart, Germany). 58(1)
Autor:
J Navarro, Margaret E. Hodson, S.G. McKenzie, H K Harms, Christian Koch, Birgitta Strandvik, G Mastella
Publikováno v:
Pediatric pulmonology. 36(5)
Dornase alfa (Pulmozyme) treatment for patients with cystic fibrosis (CF) has been shown to improve pulmonary function and reduce exacerbations of infection in a number of placebo-controlled double-blind studies. Data in the Epidemiologic Registry of
Autor:
J, Navarro, M, Rainisio, H K, Harms, M E, Hodson, C, Koch, G, Mastella, B, Strandvik, S G, McKenzie
Publikováno v:
The European respiratory journal. 18(2)
The European Epidemiologic Registry of Cystic Fibrosis began collecting longitudinal data on European cystic fibrosis patients in 1994. A cross-sectional analysis was performed to identify the factors associated with low values of % predicted forced
Autor:
G, Mastella, M, Rainisio, H K, Harms, M E, Hodson, C, Koch, J, Navarro, B, Strandvik, S G, McKenzie
Publikováno v:
The European respiratory journal. 16(3)
Allergic bronchopulmonary aspergillosis (ABPA) is a disease resulting from a hypersensitivity response to Aspergillus fumigatus, although the pathogenesis of the disease is unknown and its prevalence in cystic fibrosis (CF) is still poorly defined. D
Publikováno v:
European journal of medical research. 5(3)
Biliary atresia (BA) is one of the most frequent causes of neonatal cholestasis. Portoenterostomy is one therapeutic option in these patients with a success rate of 30-40%. To answer the question of therapy liver transplantation or Kasai operation -