Danish expanded newborn screening is a successful preventive public health programme

Autor: Lund, A., Wibrand, F., Skogstrand, K., Cohen, A., Christensen, M., Jäpelt, R. B., Dunø, M., Skovby, F., Nørgaard-Pedersen, B., Gregersen, N., Brage Storstein Andresen, Olsen, R. K. J., Hougaard, D.

Publikováno v: Lund, A, Wibrand, F, Skogstrand, K, Cohen, A S, Christensen, M, Jäpelt, R B, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, B S, Olsen, R K J & Hougaard, D M 2020, ' Danish expanded newborn screening is a successful preventive public health programme ', Danish Medical Journal, vol. 67, no. 1, A06190341 . < https://ugeskriftet.dk/files/scientific_article_files/2019-12/a06190341_0.pdf >
Lund, A, Wibrand, F, Skogstrand, K, Cohen, A, Christensen, M, Jäpelt, R B, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, B S, Olsen, R K J & Hougaard, D 2020, ' Danish expanded newborn screening is a successful preventive public health programme ', Danish Medical Journal, vol. 67, no. 1, A06190341 . < https://ugeskriftet.dk/dmj/danish-expanded-newborn-screening-successful-preventive-public-health-programme >
Scopus-Elsevier

INTRODUCTION: Newborn screening is a public health programme for early diagnosis of treatable diseases.METHODS: The subjects included were newborns born 2002-2019. Expanded newborn screening (eNBS) for metabolic diseases was introduced as a pilot pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::276ea02bedf211d799c62200ef9a69e9
https://findresearcher.sdu.dk:8443/ws/files/159962736/a06190341_0.pdf

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Autor: Olsen, R. K., Konarikova, E., Giancaspero, T. A., Mosegaard, S., Boczonadi, V., Matakovic, L., Veauville-Merllie, A., Terrile, C., Schwarzmayr, T., Haack, T. B., Auranen, M., Leone, P., Galluccio, M., Imbard, A., Gutierrez-Rios, P., Palmfeldt, J., Graf, E., Vianey-Saban, Christine, Oppenheim, M., Schiff, M., Pichard, S., Rigal, O., Pyle, A., Chinnery, P. F., Konstantopoulou, V., Moslinger, D., Feichtinger, R. G., Talim, B., Topaloglu, H., Coskun, T., Gucer, S., Botta, A., Pegoraro, E., Malena, A., Vergani, L., Mazza, D., Zollino, M., Ghezzi, D., Acquaviva, C., Tyni, T., Boneh, A., Meitinger, T., Strom, T. M., Gregersen, N., Mayr, J. A., Horvath, R., Barile, M., Prokisch, H.

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (6), pp.1130-45
Am. J. Hum. Genet. 98, 1130-1145 (2016)
Olsen, R K J, Koňaříková, E, Giancaspero, T A, Mosegaard, S, Boczonadi, V, Mataković, L, Veauville-Merllié, A, Terrile, C, Schwarzmayr, T, Haack, T B, Auranen, M, Leone, P, Galluccio, M, Imbard, A, Gutierrez-Rios, P, Palmfeldt, J, Graf, E, Vianey-Saban, C, Oppenheim, M, Schiff, M, Pichard, S, Rigal, O, Pyle, A, Chinnery, P F, Konstantopoulou, V, Möslinger, D, Feichtinger, R G, Talim, B, Topaloglu, H, Coskun, T, Gucer, S, Botta, A, Pegoraro, E, Malena, A, Vergani, L, Mazzà, D, Zollino, M, Ghezzi, D, Acquaviva, C, Tyni, T, Boneh, A, Meitinger, T, Strom, T M, Gregersen, N, Mayr, J A, Horvath, R, Barile, M & Prokisch, H 2016, ' Riboflavin-Responsive and-Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency ', American Journal of Human Genetics, vol. 98, no. 6, pp. 1130-45 . https://doi.org/10.1016/j.ajhg.2016.04.006

International audience; Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0cbd7b225ccfd8f625782ca638779b5b
https://hal.archives-ouvertes.fr/hal-01850412

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia

Autor: Joost, K, Ounap, K, Zordania, R, Uudelepp, M-L, Olsen, R K, Kall, K, Kilk, K, Soomets, U, Kahre, T

Publikováno v: Joost, K, Ounap, K, Zordania, R, Uudelepp, M-L, Olsen, R K, Kall, K, Kilk, K, Soomets, U & Kahre, T 2012, ' Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia ', JIMD Reports, vol. 2, pp. 79-85 . https://doi.org/10.1007/8904_2011_51

The aim of our study was to evaluate the prevalence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the general Estonian population and among patients with symptoms suggestive of fatty acid oxidation (FAO) defects. We collected D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::59e1e47ba4fd02fc8e7a15f5669f3636
https://pure.au.dk/portal/da/publications/prevalence-of-longchain-3hydroxyacylcoa-dehydrogenase-deficiency-in-estonia(e55f2bc3-b850-43f0-94bf-b2919cd6a744).html

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Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

Autor: Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.

Publikováno v: JIMD Reports - Case & Research Reports, 2011/2; 2012, p79-85, 7p