Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Claes Guthenberg"'
Publikováno v:
Journal of Inherited Metabolic Disease. 33:175-180
Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was almost unknown, with only one cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2daadcb20e5f6d12191a70209fa2c2b
https://doi.org/10.1007/s10545-010-9065-y
https://doi.org/10.1007/s10545-010-9065-y
Autor:
Lotta Engström, Karin Petersson, Kristina Teär Fahnehjelm, Gunilla Malm, Eva Karltorp, Claes Guthenberg, Ilona Lewensohn-Fuchs, Inger Uhlén, Mona-Lisa Engman
Publikováno v:
Karolinska Institutet
Congenital cytomegalovirus (CMV) infection is asymptomatic in 90% of infected newborns but approximately 10-20% of these infants are at risk of developing sequelae later, mostly hearing deficit. The aims of the study were to investigate the prevalenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf46b6a41b40e5cde413ac68f365de4
https://doi.org/10.1080/00365540802308431
https://doi.org/10.1080/00365540802308431
Publikováno v:
European Journal of Biochemistry. 128:243-248
Rat liver microsomal glutathione S-transferase was activated with N-ethylmaleimide, solubilized with Triton X-100, and purified by chromatography on hydroxyapatite and CM-Sepharose. A 36-fold purification resulted in a 36% yield, indicating that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d909d973b2737ef6d35ea5f10558c03
https://doi.org/10.1111/j.1432-1033.1982.tb06958.x
https://doi.org/10.1111/j.1432-1033.1982.tb06958.x
Publikováno v:
JIMD Reports ISBN: 9783642247576
Newborn screening was implemented in the 1960s with screening for phenylketonuria (PKU). In the same decade, it became possible to screen for classical galactosemia, a rare autosomal recessive inherited disorder, which is potentially life threatening
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4fd20420511a0c70192571e9e36ba6
https://doi.org/10.1007/8904_2011_59
https://doi.org/10.1007/8904_2011_59
Publikováno v:
Xenobiotica. 23:835-849
1. Glutathione transferases (GST) are mainly cytosolic and occur in multiple forms, which can be arranged in three distinct, structural classes. The different enzyme forms show distinct substrate specificities with electrophilic and genotoxic substan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a3e232d576492cdc2c5e38b291bcefd
https://doi.org/10.3109/00498259309059412
https://doi.org/10.3109/00498259309059412
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:
Acta paediatrica (Oslo, Norway : 1992). 98(6)
Down syndrome (DS) is frequently associated with thyroid dysfunction. The aim of this study was to investigate the blood concentration of thyrotropin (TSH) observed at neonatal screening of infants with DS and its possible association with developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a79c72bb72cf1cf89a4420a9ae5b45ee
https://pubmed.ncbi.nlm.nih.gov/19239410
https://pubmed.ncbi.nlm.nih.gov/19239410
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
Publikováno v:
Clinical chemistry. 49(6 Pt 1)
Blood dried on filter paper is widely used for screening of inherited metabolic disorders (1). In Sweden, such filters from all newborns have been permanently stored since 1975. It has been shown that proteins and DNA may be recovered from these card
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8825f5961f05d3a62490da507cd93a
https://pubmed.ncbi.nlm.nih.gov/12766003
https://pubmed.ncbi.nlm.nih.gov/12766003
Publikováno v:
JAMA Pediatrics. 168:567
Importance Recent reports have questioned the rationale for neonatal screening for congenital adrenal hyperplasia (CAH) owing to low sensitivity in salt-wasting forms and a high rate of recall (ie, a positive finding resulting in a visit to a pediatr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::20116d62c69837905ae515555d0d7797
https://doi.org/10.1001/jamapediatrics.2013.5321
https://doi.org/10.1001/jamapediatrics.2013.5321