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Akademický článek
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Akademický článek
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Autor:
Jan Gustafsson, Anna Nordenström, M. Halldin Stenlid, S. Ask, U. von Döbeln, C. Bieneck Haglind
Publikováno v:
Journal of Inherited Metabolic Disease. 38:315-322
Children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) have a defect in the degradation of long-chain fatty acids and are at risk of hypoketotic hypoglycemia and insufficient energy production as well as accumulation of toxic fat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb05bd2c0078631b038a1a27c40d692c
https://doi.org/10.1007/s10545-014-9750-3
https://doi.org/10.1007/s10545-014-9750-3
Autor:
Thomas Gasslander, Per Sandström, Tommy Sundqvist, U. von Döbeln, Lena M. Trulsson, Joar Svanvik
Publikováno v:
Amino Acids. 35:225-231
Patients in the early phase of acute pancreatitis (AP) have reduced serum levels of arginine and citrulline. This may be of patho-biological importance, since arginine is the substrate for nitric oxide, which in turn is involved in normal pancreatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897b2f5cc98dc042c06cffa5716aea28
https://doi.org/10.1007/s00726-007-0557-5
https://doi.org/10.1007/s00726-007-0557-5
Autor:
Anna Strandqvist, C. Bieneck Haglind, Rolf Zetterström, U. von Döbeln, M. Halldin Stenlid, Anna Nordenström, Antal Nemeth
Publikováno v:
JIMD Reports ISBN: 9783662528464
Reports on cognitive outcomes in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) are scarce. We present results from neuropsychological assessments of eight patients diagnosed with LCHADD prior to newborn screening with regard to clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::265966aee23dd2157bde57632972dc96
https://europepmc.org/articles/PMC5059195/
https://europepmc.org/articles/PMC5059195/
Publikováno v:
Journal of Inherited Metabolic Disease. 30:39-46
An increasing number of fatty acid oxidation defects are being detected owing to diagnostic improvements and a greater awareness among clinicians. The metabolic block leads to energy disruption, fatty infiltration, and toxic effects on organ function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08abfc40642784074cbb8d465f912b3a
https://doi.org/10.1007/s10545-006-0296-x
https://doi.org/10.1007/s10545-006-0296-x
Publikováno v:
Journal of Intellectual Disability Research. 48:663-671
Background One of the main objectives of studying intellectual disability (ID) in children is to explore its causes. A specific aetiological diagnosis is important in determining the prognosis, nature and extent of services needed to support affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15129dd2ad85c818825b78a54be158ad
https://doi.org/10.1111/j.1365-2788.2003.00573.x
https://doi.org/10.1111/j.1365-2788.2003.00573.x
Autor:
M. Fukushi, M. Meyer, M. Caggana, Marion Koopmans, G.J.C. Borrajo, J. G. Loeber, M.L. Granados Cepeda, John S. Mackenzie, T. Torresani, L. H. Elvers, Adam Meijer, M. Schipper, Ilse Zutt, U. von Döbeln, M. Rosario Torres-Sepúlveda, A.R. Rama Devi, G. Martinez Castillo, I. Khneisser, Y. Giguere, L. Vilarinho, E. de Bruin
Publikováno v:
Journal of Clinical Virology, 61(1), 74-80. Elsevier
Background: Because of lack of worldwide standardization of influenza virus surveillance, comparison between countries of impact of a pandemic is challenging. For that, other approaches to allow internationally comparative serosurveys are welcome. Ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa08ad36f83ec0aa8833248af2736f7
https://pubmed.ncbi.nlm.nih.gov/25017954
https://pubmed.ncbi.nlm.nih.gov/25017954
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:
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