Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Mária Knapková"'
Autor:
Jan Václavík, Lucie Mádrová, Štěpán Kouřil, Julie de Sousa, Radana Brumarová, Hana Janečková, Jaroslava Jáčová, David Friedecký, Mária Knapková, Leo A. J. Kluijtmans, Sarah C. Grünert, Frédéric M. Vaz, Nils Janzen, Ronald J. A. Wanders, Ron A. Wevers, Tomáš Adam
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 79-86 (2020)
Abstract 3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastating metabolic decompensations and thus would benefit
Externí odkaz:
https://doaj.org/article/b5582d80f6c3422c85eb47b0a2933ea4
Autor:
Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
Abstract Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening
Externí odkaz:
https://doaj.org/article/2208620606eb4afeb4c756b1436fd715
Autor:
Svetozár Dluholucký, Mária Knapková
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 3, p 25 (2017)
The authors present the first results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R) ethnic populations. A follow-up of ethnicity has been introduced in newborn screening for cystic fibrosis (NSCF) a
Externí odkaz:
https://doaj.org/article/a306aff585e54891b8bdd73af594ab23
Autor:
Sarah C. Grünert, Julie de Sousa, Tomáš Adam, Lucie Mádrová, Jan Václavík, Radana Brumarová, Štěpán Kouřil, Jaroslava Jáčová, Mária Knapková, David Friedecký, Leo A. J. Kluijtmans, Nils Janzen, Frédéric M. Vaz, Ronald J.A. Wanders, Hana Janečková, Ron A. Wevers
Publikováno v:
Jimd Reports, 54, 79-86
JIMD reports, 54(1), 79-86. Springer Berlin
Jimd Reports, 54, 1, pp. 79-86
JIMD Reports
JIMD Reports, Vol 54, Iss 1, Pp 79-86 (2020)
JIMD reports, 54(1), 79-86. Springer Berlin
Jimd Reports, 54, 1, pp. 79-86
JIMD Reports
JIMD Reports, Vol 54, Iss 1, Pp 79-86 (2020)
Contains fulltext : 225031.pdf (Publisher’s version ) (Open Access) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastat
Autor:
Miroslava Lysinová, Svetozár Dluholucký, D. Behulova, Ján Chandoga, Petra Jungová, Mária Knapková, Jana Lisyová, Marcel Repiský, Martina Machková, Daniel Böhmer, Ľudmila Potočňáková, Jana Saligová
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
BMC Medical Genetics
BMC Medical Genetics
Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening conditio
Autor:
Mária Knapková, Svetozár Dluholucký
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 3, p 25 (2017)
International Journal of Neonatal Screening; Volume 3; Issue 3; Pages: 25
International Journal of Neonatal Screening; Volume 3; Issue 3; Pages: 25
The authors present the first results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R) ethnic populations. A follow-up of ethnicity has been introduced in newborn screening for cystic fibrosis (NSCF) a
Autor:
Svetozár Dluholucký, Mária Knapková
Authors present The First Results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R ) ethnic populations. The follow-up of the ethnicity has been introduced in Newborn Screening for Cystic Fibrosis (NSCF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f373e5fd4396b89edbc64c67e85172
Autor:
Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slo
Externí odkaz:
https://doaj.org/article/bdd447f54e584782960d2e7d0280fe60
Autor:
J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass
Externí odkaz:
https://doaj.org/article/b2da148c817c463e8d75115a3ccc2d88
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 3, p 28 (2018)
n/a
Externí odkaz:
https://doaj.org/article/6efdf3d689764cf782bfb0a40200d737