Gabriella P Szabó Md

Gabriella P Szabó Md

University of Debrecen - Debrecen / Hungary
Medical and Health Sciences / Pediatrics and Child Health
AD Scientific Index ID: 5672506
Debreceni Egyetem
person_outline Gabriella P Szabó Md's MOST POPULAR ARTICLES
1-) A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplementGP Szabó, AV Oláh, L Kozak, E Balogh, A Nagy, I Blahakova, É OláhEuropean journal of pediatrics 169, 121-123, 2010372010
2-) 7DHC-induced changes of Kv1. 3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndromeA Balajthy, S Somodi, Z Pethő, M Péter, Z Varga, GP Szabó, G Paragh, ...Pflügers Archiv-European Journal of Physiology 468, 1403-1418, 2016252016
3-) Relation between biomarkers and clinical severity in patients with smith–Lemli–Opitz syndromeAV Oláh, GP Szabó, J Varga, L Balogh, G Csábi, V Csákváry, W Erwa, ...European journal of pediatrics 172, 623-630, 2013242013
4-) Mutational spectrum of Smith-Lemli-Opitz syndrome patients in HungaryI Balogh, K Koczok, GP Szabo, O Török, K Hadzsiev, G Csábi, L Balogh, ...Molecular syndromology 3 (5), 215-222, 2012232012
5-) A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathyK Koczok, G Merő, GP Szabó, L Madar, É Gombos, É Ajzner, JA Mótyán, ...Neuromuscular Disorders 28 (2), 129-136, 2018132018