Zobrazeno 1 - 10
of 456
pro vyhledávání: '"L, Hagenfeldt"'
Publikováno v:
Acta Paediatrica. 90:192-195
UNLABELLED The aim of this study was to investigate if an open ductus venosus representing a portal-caval shunt can lead to transient "alimentary galactosaemia" in preterm infants fed human breast milk. Twenty-six preterm infants (28-34 wk of gestati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c0ab789e8bf563719e533474ccdecef
https://doi.org/10.1111/j.1651-2227.2001.tb00283.x
https://doi.org/10.1111/j.1651-2227.2001.tb00283.x
Publikováno v:
Journal of Inherited Metabolic Disease. 21:409-415
Fatty acid oxidation has been studied with the tritium release assay in cultured fibroblasts from patients with defects in beta-oxidation and in the mitochondrial respiratory chain. Cells from all patients with beta-oxidation defects and cells from 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14903cfd1afe86bc50f1d5d5e7b78bc4
https://doi.org/10.1023/a:1005310809714
https://doi.org/10.1023/a:1005310809714
Autor:
V. Kostulas, W.‐X. Huang, L. Lannfelt, Konstantinos Kostulas, G. Eggertsen, Jan Hillert, L Hagenfeldt, Milita Crisby
Publikováno v:
European Journal of Clinical Investigation. 28:285-289
Methods A biallelic polymorphism of the methylenetretrahydrofolate reductase (MTHFR) gene, reported to influence the plasma level of homocysteine (Hcy), was investigated for a possible role in influencing the risk of ischaemic cerebrovascular disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4372357fda6999a164af95c3383aa58
https://doi.org/10.1046/j.1365-2362.1998.00281.x
https://doi.org/10.1046/j.1365-2362.1998.00281.x
Autor:
Gunilla Malm, L. Hagenfeldt, Jacek Winiarski, B Isberg, O Ringdén, S Knuutila, Claude Marcus, Inger Nennesmo, M Anvret, U. von Döbeln
Publikováno v:
Acta Paediatrica. 86:484-492
Three children with adrenoleukodystrophy (ALD) underwent allogeneic bone marrow transplantation (BMT) between 1992 and 1993. The first boy had attention deficits, marked neuropsychological deficits and widespread demyelination in the frontal lobes on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0056497a5a67e2f207f401ff3eacd73
https://doi.org/10.1111/j.1651-2227.1997.tb08918.x
https://doi.org/10.1111/j.1651-2227.1997.tb08918.x
Publikováno v:
Journal of Inherited Metabolic Disease. 18:245-248
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67bf4e8f4b07870aff3f3a23fa5054da
https://doi.org/10.1007/bf00711779
https://doi.org/10.1007/bf00711779
Autor:
C. Jakobs, F Aksu, Hans Peter Weber, Orvar Eeg-Olofsson, Kenneth M. Gibson, L. Hagenfeldt, Brigitte Vollmer, Eva Rossier, K. Edebol Eeg-Olofsson, Willy Lehnert, H. Ogier
Publikováno v:
Journal of Inherited Metabolic Disease. 18:143-146
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56da0d44ac1c8d48f1ea1dd57309f97
https://doi.org/10.1007/bf00711750
https://doi.org/10.1007/bf00711750
Publikováno v:
Screening. 1:159-166
Using filter paper blood samples, 557,000 newborn infants were screened for congenital adrenal hyperplasia (CAH). 17-Hydroxyprogesterone was determined by radioimmunoassay without organic solvent extraction. By the use of gestational age-related cut-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cd493219bb0201ab0d7fc616d5e8348
https://doi.org/10.1016/0925-6164(92)90011-s
https://doi.org/10.1016/0925-6164(92)90011-s
Publikováno v:
Journal of Internal Medicine. 230:535-538
A family is reported in which there is one case of adrenomyeloneuropathy, one case of Addison's disease and at least three heterozygous females with spastic paraparesis and peripheral neuropathy. Adrenomyeloneuropathy has not been reported previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bdc0d08a8133415145bbfad753e572
https://doi.org/10.1111/j.1365-2796.1991.tb00485.x
https://doi.org/10.1111/j.1365-2796.1991.tb00485.x
Publikováno v:
Clinical Physiology. 10:573-583
This study examines the effects of heparin and a low molecular weight heparin (LMWH) fragment on plasma lipolytic activity and substrate oxidation. Indirect calorimetry was performed continuously in healthy male subjects receiving a constant infusion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80be8db392903a7888b442b0525f4b61
https://doi.org/10.1111/j.1475-097x.1990.tb00449.x
https://doi.org/10.1111/j.1475-097x.1990.tb00449.x
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation. 59:289-291
The prevalence of the 985A > G mutation in the medium-chain acyl-CoA dehydrogenase gene was determined in the Swedish population. A heterozygote frequency of 1:127 was observed. Morbidity data indicate that most of the homozygotes with this mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c3b0cdeb6b4e63abcc26c7037ea94ae
https://doi.org/10.1080/00365519950185652
https://doi.org/10.1080/00365519950185652