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- Evolokumab pro léčbu familiární hypercholesterolémie
prof. MUDr. Vladimír Bláha, CSc.
(4/2018, Drugs & drug classes ) - Chronic hepatopathy as a long-term false diagnosis in adult form of Pompe disease
Doc. MUDr. Peter Špalek, PhD., MUDr. Ivan Martinka, PhD., Mgr. Slavomíra Mattošová, PhD., MUDr. Lucia Kucháriková, MUDr. Eva Hanáčková, Doc. MUDr. Ján Chandoga, CSc., MUDr. Anna Hlavatá, PhD., MPH
(5/2017, Original articles & case reports ) - Pompe disease – new trends in diagnosis and treatment
doc. MUDr. Peter Špalek, PhD., MUDr. Anna Hlavatá, PhD.
(5/2011, Interdisciplinary consilium )
- Wing-beating tremor and double panda sign in a patient with Wilson's disease – case report
MUDr. Martin Daniš, MUDr. Rastislav Lackovič, MUDr. Zuzana Jankovičová, MUDr. Petra Jungová, MUDr. Natália Keléšiová, MUDr. Georgi Krastev, PhD.
(1/2026, Video case reports ) - Pompe disease – clinical case report
MUDr. Ing. Ivana Patáková, CSc.
(6/2014, Case reports ) - Nationwide screening of Pompe disease in patients with unspecified muscle weakness, hyperCKemia, and respiratory insufficiency
MUDr. Lívie Mensová, MUDr. Olesja Parmová
(4/2018, Informations ) - Adult-onset huntington disease phenocopies
doc. MUDr. Jan Roth, CSc., MUDr. Martin Kucharík, MUDr. Jiří Klempíř, Ph.D.
(3/2009, Review articles ) - Pompe disease – pathogenesis, clinical features, diagnosis and enzyme replacement therapy
doc. MUDr. Peter Špalek, PhD.
(1/2009, Review articles ) - POKROKY V GENETIKE NEUROVÝVOJOVÝCH PORÚCH
prof. MUDr. Ľubomír Lisý, DrSc.
(4/2007, Review articles ) - Glycogen storage disease type II (GSD II, Pompe disease). Current diagnostic and therapeutic options. Clinical case report
MUDr. Věra Malinová
(5/2010, Review articles ) - Aromatic amino acid decarboxylase deficiency (AADC). Perhaps a more common cause of delayed psychomotor development than it might seem
MUDr. Lenka Knedlíková, MUDr. Pavlína Danhofer, Ph.D., MUDr. Senad Kolář, doc. MUDr. Hana Ošlejšková, Ph.D.
(5/2022, Review articles ) - Pyridoxine-dependent epilepsy – new trends in diagnosis and treatment
MUDr. Lia Elstnerová, doc. RNDr. Lenka Fajkusová, CSc., MUDr. Štefania Rusnáková, doc. MUDr. Hana Ošlejšková, Ph.D., Mgr. Eva Jansová, Ph.D., Mgr. Pavla Šultesová, doc. MUDr. Dalibor Valík, Ph.D.
(5/2010, Review articles ) - Ideopathic generalized epilepsies
doc. MUDr. Hana Ošlejšková, Ph.D., MUDr. Štefánia Aulická
(4/2014, Review articles ) - Hereditary spastic paraplegias: clinical and genetic aspects
MUDr. Radim Mazanec, Ph.D., Prof. MUDr. Pavel Seeman, Ph.D., RNDr. Anna Uhrová Mészárosová, Ph.D.
(6/2016, Main topic ) - Spinal muscular atrophy – diagnostics, therapy, research
RNDr. Petra Hedvičáková, MUDr. Jana Haberlová, Ph.D., MUDr. Alžběta Slabá, MUDr. Tereza Doušová
(6/2016, Main topic ) - Pompeho nemoc
doc. MUDr. Martin Magner, Ph.D., MUDr. Jitka Jirečková
(3/2018, Review articles ) - Genetická heterogenita a fenotypová variabilita tzv. asociovaných príznakov u neurodegeneratívnych ochorení. Pes cavus
prof. MUDr. Pavel Varsik, DrSc., MUDr. Zoltán Goldenberg, MUDr. Pavol Kučera, PhD., MUDr. Darina Buranová, PhD., prof. MUDr. Pavel Traubner, PhD.
(3/2004, Case reports ) - The late-onset form of Pompe disease
MUDr. Radka Mišurová, MUDr. Věra Malinová
(4/2021, Case reports ) - Diaphragm respiration disorder as first clinical manifestation in adult form of Pompe disease
doc. MUDr. Peter Špalek, PhD., RNDr. Slávka Mattošová, PhD., MUDr. Marián Bali-Hudák, doc. MUDr. Ján Chandoga, CSc.
(4/2021, Events )
- Ciliopathies and polycystic kidney disease
prof. MUDr. László Kovács, DrSc., MPH, doc. MUDr. Denisa Ilenčíková, PhD., MUDr. Gabriela Nagyová, Mgr. Adriána Krajčiová
(4/2012, Review articles ) - Martsolf syndrome – the third case in the family
MUDr. Klaudia Demová, PhD., MUDr. Simona Záležáková, MUDr. Ivica Róžová, MUDr. Peter Križan, CSc.
(3/2024, Original articles & Case reports ) - Long term complex follow up of children with neurofibromatosis
doc. MUDr. Pavol Sýkora, CSc., doc. MUDr. Ľudmila Košťálová, CSc., MUDr. Anna Hlavatá, MUDr. Anna Rybárová, MUDr. Marianna Holobradá, MUDr. Jarmila Hricáková, MUDr. Iveta Elízová
(2/2009, Review articles ) - Recurrent fever in children
MUDr. Petra Król, prof. MUDr. Pavla Doležalová, CSc.
(5/2013, Review articles )
- Polycystic kidneys in childhood – a wide range of overlapping diseases
RNDr. Lucia Oravcová, PhD.,, RNDr. Katarína Skalická, PhD., MUDr. Gabriela Hrčková, prof. MUDr. Ľudmila Podracká, CSc.
(4/2020, Review articles )
- Genetic background and management in patients with factor XIII deficiency – our experience
MUDr. Ivana Plameňová, PhD., MBA, RNDr. Jana Žolková, PhD., doc. MUDr. Juraj Sokol, PhD., prof. MUDr. Ján Staško, PhD.
(1/2021, Main topic )
- A novel deletion in the ATAD3 gene cluster as a cause of pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome in a newborn
Mgr. Renáta Michalovská, Ph.D., Mgr. Helena Paszeková, MUDr. Zděnka Vlčková, MUDr. Václava Curtisová, MSc., MUDr. Ivana Marková, Ph.D., MUDr. Martin Schwarz, Ph.D., MBA
(2/2025, Main topic ) - Friedreich’s ataxia − population study in SR, possibilities of diagnosis and treatment
RNDr. Jana Lisyová, PhD., RNDr. Robert Petrovič, PhD.
(2/2024, Treatment of genetic syndromes )













