Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kari Høie"'
Autor:
Joakim Eikeland, Lars Eide, Ragnhild Skinnes, Lars Mørkrid, Sonia Distante, Tina Pawar, Kari Høie, Panpan You
Publikováno v:
Transfusion. 56:1435-1441
BACKGROUND Hereditary hemochromatosis (HH) is a common disease of iron metabolism, manifesting with iron overload and affecting up to 1% of individuals of northern European descent. Untreated HH can result in irreversible damage of the liver and panc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f06a53877a19da7caa6889df6e575ea9
https://doi.org/10.1111/trf.13588
https://doi.org/10.1111/trf.13588
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation. 72:555-562
To investigate testosterone stability in archival serum samples stored for etiological cancer research, and compare two methods for testosterone measurements.Four sets of 130 serum samples were randomly selected from male blood donors, aged 40-49 yea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d408b27b102f3047e7f6dc2e59b26a
https://doi.org/10.3109/00365513.2012.705888
https://doi.org/10.3109/00365513.2012.705888
Autor:
Sonia, Distante, Joakim, Eikeland, Tina, Pawar, Ragnhild, Skinnes, Kari, Høie, Panpan, You, Lars, Mørkrid, Lars, Eide
Publikováno v:
Transfusion. 56(6)
Hereditary hemochromatosis (HH) is a common disease of iron metabolism, manifesting with iron overload and affecting up to 1% of individuals of northern European descent. Untreated HH can result in irreversible damage of the liver and pancreas, poten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5731a5c91fe7723b902f3a6853bef344
https://pubmed.ncbi.nlm.nih.gov/27045387
https://pubmed.ncbi.nlm.nih.gov/27045387
Publikováno v:
Human Mutation. 7:239-243
Sixty-two hereditary tyrosinaemia type I (HT1) patients of various ethnic origins were classified clinically into acute, chronic, or intermediate phenotypes and screened for the 14 published causal mutations in the fumarylacetoacetase (FAH) gene. Res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3514eeac2f1b1cd12a3cf0cc30822a57
https://doi.org/10.1002/(sici)1098-1004(1996)7:3<239::aid-humu8>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1996)7:3<239::aid-humu8>3.0.co
Publikováno v:
Scandinavian journal of clinical and laboratory investigation. 70(3)
For assessment of total oxalic acid (OX) status, reliable quantification of OX in both urine and plasma is important. For urine, but not plasma, a commercial kit is available. We have recently described a LC-MSMS method for OX in plasma. The aim of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c572acd1d88c2b7d5e7d24e42a4d0d79
https://pubmed.ncbi.nlm.nih.gov/20402602
https://pubmed.ncbi.nlm.nih.gov/20402602
Publikováno v:
Human Genetics. 94
Two mutations are reported in six tyrosinemia type 1 patients from northern Europe. In four patients, a G to A transition at nucleotide position 1009 (G1009--A) of the fumarylacetoacetase (FAH) coding sequence caused aberrant splicing by introducing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec3b336d96aedf923f4921317b223a4
https://doi.org/10.1007/bf00208276
https://doi.org/10.1007/bf00208276
Autor:
Helge Rootwelt, E Agsteribbe, Rudolphus Berger, E A Kvittingen, Kari Høie, H. van Faassen, M Hartog
Publikováno v:
Human genetics. 89(2)
Deficiency of human fumarylacetoacetase (FAH) activity results in hereditary tyrosinemia type I. Using the restriction enzymes BglII, KpnI and StuI and a 1.3-kb cDNA probe for the FAH gene, we have found 6 restriction fragment length polymorphisms (R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32e0e71857ac6a47e1445db96628e1ad
https://pubmed.ncbi.nlm.nih.gov/1350265
https://pubmed.ncbi.nlm.nih.gov/1350265