The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene
Debeljak, M, Blazina, S, Brecelj, J, Avčin, T, Toplak, N
Published in Frontiers in pediatrics (14.06.2023)
Published in Frontiers in pediatrics (14.06.2023)
Get full text
Journal Article
Characteristics of Gastroesophageal Reflux and Potential Risk of Gastric Content Aspiration in Children With Cystic Fibrosis
Blondeau, K, Pauwels, A, Dupont, LJ, Mertens, V, Proesmans, M, Orel, R, Brecelj, J, López‐Alonso, M, Moya, MJ, Malfroot, A, De Wachter, E, Vandenplas, Y, Hauser, B, Sifrim, D
Published in Journal of pediatric gastroenterology and nutrition (01.02.2010)
Published in Journal of pediatric gastroenterology and nutrition (01.02.2010)
Get full text
Journal Article
The natural course of FIC1 deficiency and BSEP deficiency: Initial results from the NAPPED-consortium (Natural course and Prognosis of PFIC and Effect of biliary Diversion)
van Wessel, D., Thompson, R., Grammatikopoulos, T., Kadaristiana, A., Jankowska, I., Lipiński, P., Czubkowski, P., Gonzales, E., Jacquemin, E., Spraul, A., Sokal, E., Shagrani, M.A., Broering, D.C., Algoufi, T., Mazhar, N., Nicastro, E., Kelly, D., Nebbia, G., Arnell, H., Fischler, B., Sankaranarayanan, S., Hulscher, J., Serranti, D., Arikan, C., Polat, E., Debray, D., Lacaille, F., Goncalves, C., Hierro, L., Bartolo, G.M., Mozer-Glassberg, Y., Azaz, A., Brecelj, J., Dezsőfi, A., Calvo, P.L., Pizzol, A., Schmitt, D., Sturm, E., van der Woerd, W., Hansen, B., Verkade, H.
Published in JOURNAL OF HEPATOLOGY (01.04.2018)
Published in JOURNAL OF HEPATOLOGY (01.04.2018)
Get full text
Journal Article
Conference Proceeding
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome
Sustar, M., Perovšek, D., Cima, I., Stirn-Kranjc, B., Hawlina, M., Brecelj, J.
Published in Documenta ophthalmologica (01.06.2015)
Published in Documenta ophthalmologica (01.06.2015)
Get full text
Journal Article
Pattern ERG and VEP maturation in schoolchildren
Brecelj, J, Štrucl, M, Zidar, I, Tekavčič-Pompe, M
Published in Clinical neurophysiology (01.11.2002)
Published in Clinical neurophysiology (01.11.2002)
Get full text
Journal Article
P345 BMI (Z-scores) in children with cystic fibrosis improved despite comparable energy and nutritional intake following the introduction of elexacaftor/tezacaftor/ivacaftor therapy
Orel, A., Praprotnik Novak, A., Brecelj, J., Krivec, U., Rodman Berlot, J.
Published in Journal of cystic fibrosis (01.06.2024)
Published in Journal of cystic fibrosis (01.06.2024)
Get full text
Journal Article
Viability of human chondrocytes in an ex vivo model in relation to temperature and cartilage depth
Drobnic, M, Mars, T, Alibegović, A, Bole, V, Balazic, J, Grubic, Z, Brecelj, J
Published in Folia biologica (01.01.2005)
Get full text
Published in Folia biologica (01.01.2005)
Journal Article
Genotype correlates with the natural history of severe bile salt export pump deficiency
van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre A., Nebbia, Gabriella, Arnell, Henrik, Björn Fischler, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton M.G., Hansen, Bettina E., Verkade, Henkjan J.
Published in Journal of hepatology (01.07.2020)
Published in Journal of hepatology (01.07.2020)
Get full text
Journal Article
Pattern ERG and psychophysical functions in Best's disease
JARC-VIDMAR, M, POPOVIC, P, HAWLINA, M, BRECELJ, J
Published in Documenta ophthalmologica (01.07.2001)
Published in Documenta ophthalmologica (01.07.2001)
Get full text
Journal Article
Genetic risk for co-occurrence of type 1 diabetes and celiac disease is modified by HLA-C and killer immunoglobulin-like receptors
Smigoc Schweiger, D., Mendez, A., Kunilo Jamnik, S., Bratanic, N., Bratina, N., Battelino, T., Brecelj, J., Vidan-Jeras, B.
Published in Tissue antigens (01.11.2014)
Published in Tissue antigens (01.11.2014)
Get full text
Journal Article
Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external controls from the NAPPED database
Hansen, Bettina, Valcheva, Velichka, Yu, Qifeng, van Wessel, Daan, Thompson, Richard, Gonzalès, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Kumar, Kishwer, Alkuraya, Fowzan, Sateesh, Meddirevula, Broering, Dieter Clemens, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Llanillo, Loreto Hierro, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy L., Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Önal, Zerrin, Felzen, Antonia, Nomden, Mark, Sonajalg, Jaak, Stein, Philip, Ni, Quanhong, Clemson, Christine, Mattsson, Jan, Verkade, Henkjan J.
Published in JOURNAL OF HEPATOLOGY (01.06.2023)
Published in JOURNAL OF HEPATOLOGY (01.06.2023)
Get full text
Journal Article
Conference Proceeding
Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group
Murillo Perez, Carla Fiorella, Vandriel, Shannon M., Wang, Jian-She, Liting, Li, She, Huiyu, Jankowska, Irena, Czubkowski, Piotr, Gliwicz, Dorota, Gonzalès, Emmanuel, Jacquemin, Emmanuel, Bouligand, Jérôme, D’Antiga, Lorenzo, Nicastro, Emanuele, Fischler, Björn, Arnell, Henrik, Siew, Susan, Stormon, Michael, Loomes, Kathleen M., Piccoli, David A., Rand, Elizabeth B., Squires, James E., Karpen, Saul J., Romero, Rene, Kasahara, Mureo, Önal, Zerrin, Sokal, Etienne, Demaret, Tanguy, Wiecek, Sabina, Lacaille, Florence, Debray, Dominique, Hardikar, Winita, Shankar, Sahana, Valentino, Pamela, Sundaram, Shikha, Chaidez, Alexander, Ebel, Noelle, Feinstein, Jeffrey, Mozar-Glazberg, Yael, Lin, Henry, Rock, Nathalie, Verkade, Henkjan J., Jensen, M.K., Jaramillo, Catalina, Kim, Kyungmo, Oh, Seak Hee, Brecelj, Jernej, Alam, Seema, Indolfi, Giuseppe, Blondet, Niviann, Fawaz, Rima, Nastasio, Silvia, Calvo, Pier Luigi, Nebbia, Gabriella, Arıkan, Cigdem, Larson-Nath, Catherine, Zizzo, Andréanne N., Sandahl, Thomas Damgaard, Tzivinikos, Christos, El-Koofy, Nehal, Elmonem, Mohamed, Desai, Dev, Karnsakul, Wikrom, Karthikeyan, Palaniswamy, Bulut, Pinar, Kerkar, Nanda, Wolters, Victorien, Roberts, Amin J, Evans, Helen, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Kelly, Deirdre, Lee, Way Seah, Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan, Bernabeu, Jesús Quintero, Quiros-Tejeira, Ruben E., Melere, Melina, Carvalho, Elisa, Eshun, John, Zellos, Aglaia, Dezsőfi, Antal, Pinto, Raquel Borges, Schwarz, Kathleen, Rogalidou, Maria, Garcia, Jennifer, Tamara, María Legarda, Beretta, Marisa, Mujawar, Quais, Santos-Silva, Ermelinda, Busoms, Cristina Molera, Lurz, Eberhard, Gonçalves, Cristina, Jimenez-Rivera, Carolina, Bañales, Jesús M., Shah, Uzma, Thompson, Richard, Hansen, Bettina, Kamath, Binita M.
Published in JOURNAL OF HEPATOLOGY (01.06.2023)
Published in JOURNAL OF HEPATOLOGY (01.06.2023)
Get full text
Journal Article
Conference Proceeding