Publications by authors named "Maria Knapkova"

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Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova

Front Endocrinol (Lausanne)· April 2023

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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
J Gerard Loeber, Dimitris Platis, Rolf H Zetterström, Shlomo Almashanu, François Boemer, Maria Knapkova

Int J Neonatal Screen· March 2021

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Regulatory landscape of providing information on newborn screening to parents across Europe.
Věra Franková, Riona O Driscoll, Marleen E Jansen, J Gerard Loeber, Viktor Kožich

Eur J Hum Genet· January 2021

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A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Jan Václavík, Lucie Mádrová, Štěpán Kouřil, Julie de Sousa, Radana Brumarová

JIMD Rep· July 2020

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Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
Stella Mazurova, Marketa Tesarova, Jiri Zeman, Viktor Stranecky, Hana Hansikova, Maria Knapkova

J Dermatol· June 2020

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Reliability of Neonatal Screening Results.
Maria Knapkova, Kate Hall, Gerard Loeber

Int J Neonatal Screen· September 2018

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An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková

BMC Med Genet· April 2018

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