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المؤلفون: Aufricht, C., Votava, F., Marx, M., Frenzel, K., Simbruner, G.

المصدر: Intensive Care Medicine. 23(9):992-997

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Alternate Title: False positivity in newborn screening of 21-hydroxylase deficiency. (English)

المؤلفون: David, J., Hedelová, M., Votava, F.

المصدر: Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie; 2019, Vol. 74 Issue 6, p354-358, 5p

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المؤلفون: Mayell, S. J., Munck, A., Craig, J. V., Sermet, I., Brownlee, K. G., Schwarz, M. J., Castellani, C., Southern, K. W., Working Group Balascakova, European Cystic Fibrosis Society Neonatal Screening M., Barben, J., Gabriel, B., Brownlee, K., Burrows, E., Bush, A., Corbetta, C., Dankert Roelse, J., De Boeck, K., Desai, M., Dodge, J., Doull, I., Eichler, I., Green, A., Huet, F., Holubova, A., Iapichino, L., Lebecque, P., Macek, M., Melotti, P., Padoan, R., Quattrucci, Serena, Reid, A., Renner, S., Roussey, M., Satish, R., Sands, D., Seia, M., Skalicka, V., Southern, K., Schwarz, M., Taylor, C., Taccetti, G., Tiddens, H., Tummler, B., Vavrova, V., Votava, F., Weller, P., Wilschanski, M.

المصدر: Journal of Cystic Fibrosis. 8:71-78

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pediatrics, Cystic Fibrosis, education, Modified delphi, MEDLINE, Cystic Fibrosis Transmembrane Conductance Regulator, cystic fibrosis, gene analysis, management, neonatal screening, sweat test, Sodium Chloride, Cystic fibrosis, Neonatal Screening, Gene analysis, medicine, Humans, Pediatrics, Perinatology, and Child Health, Genetic Testing, Sweat, Sweat test, Genetic testing, Newborn screening, medicine.diagnostic_test, Sweat testing, business.industry, Infant, Newborn, medicine.disease, Infant newborn, Management, Family medicine, Mutation, Pediatrics, Perinatology and Child Health, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1506402b50d0c50d9353a3ba30896f75
https://doi.org/10.1016/j.jcf.2008.09.005

Alternate Title: Early diagnosis of severe primary immunodeficiencies, TREC/KREC assay. (English)

المؤلفون: Šedivá, A., Zachová, R., Klocperk, A., Bloomfield, M., Froňková, E., Svaton, M., Freiberger, T., Litzman, J., Votava, F., Kožich, V.

المصدر: Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie; 2019, Vol. 74 Issue 3, p182-187, 6p

مصطلحات موضوعية: SEVERE combined immunodeficiency, EARLY diagnosis, T cells, B cells, T cell receptors, BIOLOGICAL assay

Alternate Title: Newborn screening of inherited metabolic diseases in the Czech Republic. (English)

المؤلفون: Pešková, K., Chrastina, P., Bártl, J., Adam, T., Votava, F., Honzík, T., Kožich, V.

المصدر: Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie; 2018, Vol. 73 Issue 6, p390-394, 5p

مصطلحات موضوعية: METABOLIC disorders, QUALITY of life, NEWBORN screening, METABOLITE analysis, TANDEM mass spectrometry

المؤلفون: Holubová, A., Gaillyová, R., Skalická, V., Vinohradská, H., Hedelová, M., Libik, M., Valášková, I., Bartošová, J., Doušová, T., Holčíková, A., Homola, L., Votava, F., Macek, M., Jr.

المصدر: In Journal of Cystic Fibrosis June 2019 18 Supplement 1:S70-S70