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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 ) - Hereditary disorders of purine metabolism associated with renal impairment
prof. MUDr. László Kovács, DrSc., MPH, RNDr. Katarína Hlinková, MUDr. Gabriela Nagyová, Mgr. Michaela Čižmárová, MUDr. Anna Hlavatá, PhD., MPH
(3/2015, Interdisciplinary consilium )
- Pompe disease – clinical case report
MUDr. Ing. Ivana Patáková, CSc.
(6/2014, Case reports ) - Treatable inherited metabolic disorders with extrapyramidal manifestation in children
Doc. MUDr. Miriam Kolníková, PhD., MUDr. Dominika Kovárová, MUDr. Patrícia Balážová, MUDr. Silvia Radová
(2/2022, Main topic ) - Treatable lysosomal storage disorders with movement disorder manifestations
MUDr. Alexandra Lacková, Doc. MUDr. Matej Škorvánek, PhD.
(2/2022, Main topic ) - Glycogen storage disease type II (GSD II, Pompe disease). Current diagnostic and therapeutic options. Clinical case report
MUDr. Věra Malinová
(5/2010, Review articles ) - Pokroky v léčbě dědičných metabolických poruch s neurologickou symptomatologií
doc. MUDr. Martin Magner, Ph.D., MUDr. Hana Kolářová, doc. MUDr. Tomáš Honzík, Ph.D.
(2/2018, Main topic ) - Pompe‘s disease in the Czech Republic – blood-screening project in risk patients using a „dried blood spot“
doc. MUDr. Hana Ošlejšková Ph.D., MUDr. Štefania Rusnáková, MUDr. Stanislav Voháňka, CSc. MBA, MUDr. Eva Slouková
(2/2009, Review articles ) - 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 )
- B12 vitamin metabolism disorders
MUDr. Katarína Fabriciová, MUDr. Darina Behúlová, PhD., RNDr. Jozefína Škodová, MUDr. Darina Holešová, MUDr. Mária Ostrožlíková, Ing. Katarína Schmidtová, doc. MUDr. Viktor Kožich, PhD.
(4/2012, Review articles ) - Hereditary disorders of purine metabolism associated with renal impairment
prof. MUDr. László Kovács, DrSc., MPH, RNDr. Katarína Hlinková, MUDr. Gabriela Nagyová, Mgr. Michaela Čižmárová, MUDr. Anna Hlavatá, PhD., MPH
(6/2015, Review articles ) - Late onset of inherited urea cycle disorder – ornithine transcarbamoylase deficiency
prof. MUDr. Zdeněk Doležel, CSc., MUDr. RNDr. Pavel Ješina, Ph.D., MUDr. Jiří Štarha, Ph.D., doc. MUDr. Tomáš Honzík, Ph.D., MUDr. Jan Papež, MUDr. Petr Jabandžiev, doc. MUDr. Dagmar Procházková, Ph.D.
(6/2016, Original articles & Case reports ) - Pseudo-Bartter‘s syndrome in an infant with false negative screening for cystic fibrosis
prof. MUDr. László Kovács, DrSc., MPH, MUDr. Viktor Jankó, MUDr. Katarína Hlavatá
(6/2012, Case reports ) - Pompe disease
MUDr. Eva Slouková, doc. MUDr. Hana Ošlejšková, Ph.D., MUDr. Stanislav Voháňka, CSc., MBA, MUDr. RNDr. Pavel Ješina, Ph.D.
(5/2009, Review articles ) - Treatable inherited metabolic disorders with extrapyramidal manifestation in children
Doc. MUDr. Miriam Kolníková, PhD., MUDr. Dominika Kovárová, MUDr. Patrícia Balážová, MUDr. Silvia Radová
(3/2022, Original articles & Case reports )
- Acrodermatitis enteropathica and metabolic disorders that resemble its cutaneous features
MUDr. Zuzana Kardošová, PhD., doc. MUDr. Dušan Buchvald, PhD.
(2/2019, Review articles )
- Neurodegeneration and lysosomal storage disorders
MUDr. Katarína Juríčková, PhD., MUDr. Anna Hlavatá, PhD., MPH
(1/2024, Main topic )