Zobrazeno 1 - 10
of 96
pro vyhledávání: '"J Steen-Johnsen"'
Autor:
K. C. Lødrup Carlsen, Kai-Håkon Carlsen, A. Winsness, J. Steen-Johnsen, K. Nikander, J. Havnen, Jens Leegaard
Publikováno v:
Pediatric Allergy and Immunology. 12:159-165
A multi-center, double-blind, randomized dose-response study was performed to assess the effect of 3 months of treatment with two different doses of inhaled nebulized budesonide in children with acute recurrent bronchial obstruction (BO) causing hosp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe1da80acb4e84bb06c90538c077eca6
https://doi.org/10.1034/j.1399-3038.2001.012003159.x
https://doi.org/10.1034/j.1399-3038.2001.012003159.x
Autor:
Odile Bournier, J. Steen-Johnsen, Didier Dhermy, Bernard Grandchamp, Gilles Hetet, Gil Tchernia, T. Cynober
Publikováno v:
Clinical & Laboratory Haematology. 22:329-336
We studied a recessive hereditary spherocytosis (HS) family from Norway in which all four children had haemolytic spherocytosis while spectrin (Sp) deficiency was detected in the proband. Molecular analysis demonstrated that all affected children had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd2b63b103620ba014b8656074af887d
https://doi.org/10.1046/j.1365-2257.2000.00319.x
https://doi.org/10.1046/j.1365-2257.2000.00319.x
Autor:
L Tranebjaerg, Maurice Super, Dian Donnai, Raoul C.M. Hennekam, Alex Magee, Bronwyn Kerr, Jill Clayton-Smith, J Steen-Johnsen, R F Mueller, Louise Brueton, Han G. Brunner
Publikováno v:
Clinical dysmorphology, 6(4), 291-302. Lippincott Williams and Wilkins
We describe nine children with a similar pattern of features including macrocephaly and cutis marmorata telangiectatica congenita. All were large at birth and had a distinctive capillary haemangioma involving the philtrum and upper lip. The seven who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87287de6eaf0be7db5778907b9d7306e
https://doi.org/10.1097/00019605-199710000-00001
https://doi.org/10.1097/00019605-199710000-00001
Publikováno v:
Acta Paediatrica. 79:1063-1068
Three patients with hereditary tyrosinemia type 1, two brothers and one girl, studied at the age of 5, 12 and 15 years, respectively, had neither generalized hyperaminoaciduria, glucosuria nor clinical symptoms of rickets. Untreated the elder brother
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a68a583882dcfb418c6ec418f9ad368
https://doi.org/10.1111/j.1651-2227.1990.tb11384.x
https://doi.org/10.1111/j.1651-2227.1990.tb11384.x
Publikováno v:
Clinical and laboratory haematology. 22(6)
We studied a recessive hereditary spherocytosis (HS) family from Norway in which all four children had haemolytic spherocytosis while spectrin (Sp) deficiency was detected in the proband. Molecular analysis demonstrated that all affected children had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::438dd7a96c29614b2a2ad9a618202c0d
https://pubmed.ncbi.nlm.nih.gov/11318798
https://pubmed.ncbi.nlm.nih.gov/11318798
Autor:
P J, Moe, A, Holen, A, Glomstein, B, Madsen, M, Hellebostad, T, Stokland, R, Nygaard, K W, Wefring, J, Steen-Johnsen, B, Nielsen, C, Hapnes, S, Børsting
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 119(4)
From 1975 to 1980, 153 Norwegian children were diagnosed with acute lymphocytic leukaemia. In 1995, all 98 survivors were studied and compared to matched family controls. 132 children were treated with the national protocol. Of these, 93 (70.5%) were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::678c03c5c967c4b76689df9978d36885
https://pubmed.ncbi.nlm.nih.gov/10081372
https://pubmed.ncbi.nlm.nih.gov/10081372
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 113(23)
Since 1987 we have analysed throat samples from 1,086 healthy contacts of 32 patients with meningococcal disease. The disease-causing strain was found in contacts of 17 out of the 32 patients. 161 (18%) of the contacts carried meningococci, and 30 (3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05d95479174331abe5cbac3a60c5144e
https://pubmed.ncbi.nlm.nih.gov/8236200
https://pubmed.ncbi.nlm.nih.gov/8236200
Publikováno v:
Journal of Inherited Metabolic Disease. 1:137-144
A male boy is described, who suffered from an intractable diarrhoea and several infections and who died in a severe marasmic state at the age of 8 months. Immunological studies revealed a block in the normal differentiation of B cells to Ig-producing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b424ec67f2e12c060d95cd15f8a48af1
https://doi.org/10.1007/bf01805582
https://doi.org/10.1007/bf01805582
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation. 20:313-328
A new inborn error of metabolism characterized by severe metabolic acidosis, polyuria, dehydration, emaciation and the urinary excretion of large amounts of methylmalonic acid is described. Two siblings of the patient have died in the neonatal period
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b507cdeb1f579aecfaa3d67c20b038fb
https://doi.org/10.3109/00365516709076961
https://doi.org/10.3109/00365516709076961
Publikováno v:
Acta Paediatrica. 57:409-416
Summary The amino acid pattern in the urine and serum was investigated in two cases of cystinosis before and on treatment with a diet low in methionine and cystine. The cerebrospinal fluid and the liver were studied two months after dietary treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::933b51230933fe8d4eb8fce685bdee2f
https://doi.org/10.1111/j.1651-2227.1968.tb07313.x
https://doi.org/10.1111/j.1651-2227.1968.tb07313.x