Pregled in ocena kazalcev bolezni otrok in mladostnikov s cistično fibrozo v Sloveniji

Authors: Ana Drnovšek, Marina Praprotnik, Uroš Krivec, Malena Aldeco, Dušanka Lepej, Saša Šetina Šmid, Aleksandra Zver, Majda Oštir, Katja Seme, Jernej Brecelj, Anija Orel, Darja Šmigoc Schweiger, Jasna Rodman Berlot

Source: Zdravniški Vestnik, Vol 92, Iss 7-8, Pp 285-292 (2023)

Subject Terms: otroci, pljučna funkcija, prehranjenost, mikrobiologija, zdravljenje, Medicine

File Description: electronic resource

Relation: https://vestnik.szd.si/index.php/ZdravVest/article/view/3399; https://doaj.org/toc/1318-0347; https://doaj.org/toc/1581-0224

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RECOGNITION AND TREATMENT OF PATIENTS WITH BILE ACID SYNTHESIS DISORDERS

Authors: Jernej Brecelj

Source: Slovenska pediatrija, Vol 29, Iss 3, Pp 129-134 (2022)

Subject Terms: cholestasis, infant, low gamma-gt, bile acids, cholic acid, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2022/Slovpediatr-2022-3-02en.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

Access URL: https://doaj.org/article/42509d809f8749f2889f89d040e05866

PREPOZNAVA IN ZDRAVLJENJE BOLNIKOV Z MOTNJAMI SINTEZE ŽOLČNIH KISLIN

Authors: Jernej Brecelj

Source: Slovenska pediatrija, Vol 29, Iss 3, Pp 129-134 (2022)

Subject Terms: holestaza, dojenček, nizke vrednosti gama -gt, žolčne kisline, holna kislina, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2022/Slovpediatr-2022-3-02.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

Access URL: https://doaj.org/article/82ef9f527f604c6e8e0028f290a1796d

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

Authors: Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj

Source: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100986- (2023)

Subject Terms: Phosphoribosylpyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000320; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/50a4fddc3e394652a0dc8f01a9ee15fc

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Authors: Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade

Source: JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)

Subject Terms: BSEP, PFIC2, compound heterozygosity, interruption of the enterohepatic circulation, genotype, phenotype, Diseases of the digestive system. Gastroenterology, RC799-869

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555922001987; https://doaj.org/toc/2589-5559

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NEALKOHOLNI STEATOHEPATITIS PRI OTROKU − PRAKTIČNI PRISTOP S PREDSTAVITVIJO PRIMERA

Authors: Ana Šinkovec, Milanka Živanović, Martin Thaler, Jernej Brecelj

Source: Slovenska pediatrija, Vol 28, Iss 3, Pp 154-158 (2021)

Subject Terms: otrok, nealkoholni steatohepatitis, nealko-holna maščobna spremenjenost jeter, priporočila, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-3-05.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

Access URL: https://doaj.org/article/5d81b0d644174279b3d7fdd89ccda062

NON-ALCOHOLIC STEATOHEPATITIS IN CHILDREN − A PRACTICAL APPROACH WITH CASE REPORT

Authors: Ana Šinkovec, Milanka Živanović, Martin Thaler, Jernej Brecelj

Source: Slovenska pediatrija, Vol 28, Iss 3, Pp 154-158 (2021)

Subject Terms: child, non-alcoholic steatohepatitis, non-alcoholic fatty liver disease, recommendations, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-3-05en.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

Access URL: https://doaj.org/article/b567f8e473b0478293690e0040bd8d88

CYSTIC HYDATID DISEASE IN A CHILD: CASE REPORT

Authors: Petra Golob, Katja Zemljarič, Jernej Brecelj

Source: Slovenska pediatrija, Vol 27, Iss 4, Pp 183-187 (2020)

Subject Terms: hydatid cyst, parasitosis, echinococcus granulosus, paediatrics, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2020/Slovpediatr-2020-4-04en.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

Access URL: https://doaj.org/article/def3693d99484ba7825466d2b062be98

CISTIČNA HIDATIDNA BOLEZEN PRI OTROKU: PRIKAZ PRIMERA

Authors: Petra Golob, Katja Zemljarič, Jernej Brecelj

Source: Slovenska pediatrija, Vol 27, Iss 4, Pp 183-187 (2020)

Subject Terms: hidatidna cista, parazitoza, echinoccocus granulosus, pediatrija, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2020/Slovpediatr-2020-4-04.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

Access URL: https://doaj.org/article/974155939ddd4d99a639d1b073b8fb72

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

Authors: Jaka Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac, Barbara Faganel Kotnik, Marketa Tesarova, Ziga Iztok Remec, Marusa Debeljak, Tadej Battelino, Urh Groselj

Source: Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100836- (2022)

Subject Terms: Tyrosinemia, Fumarylacetoacetate hydrolase, Nitisinone, Dried blood spot, Succinylacetone, Intronic variant, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001312; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/9f13cc7dddfa42528e11ec36f92ce8fe

Non-Alcoholic Fatty Liver Disease in Children

Authors: Jernej Brecelj, Rok Orel

Source: Medicina, Vol 57, Iss 7, p 719 (2021)

Subject Terms: pediatric fatty liver disease, obesity, lifestyle modification, diet, physical activity, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/1648-9144/57/7/719; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144

Access URL: https://doaj.org/article/637d88e80f294c72bbcfbe6e13b30fe9

Dual Role of PTPN22 but Not NLRP3 Inflammasome Polymorphisms in Type 1 Diabetes and Celiac Disease in Children

Authors: Darja Smigoc Schweiger, Katja Goricar, Tinka Hovnik, Andrijana Mendez, Natasa Bratina, Jernej Brecelj, Blanka Vidan-Jeras, Tadej Battelino, Vita Dolzan

Source: Frontiers in Pediatrics, Vol 7 (2019)

Subject Terms: inflammasome, NLRP3, CARD8, PTPN22, type 1 diabetes, celiac disease, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2019.00063/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/3a65847dca554cabb0b5503e90baea39

UP-TO-DATE MANAGEMENT OF LIVER DISEASE AND COMPLICATIONS IN CYSTIC FIBROSIS AND TRANSITION OF ADOLESCENTS FROM PEDIATRIC TO ADULT CARE

Authors: Marina Praprotnik, Nevenka Bratanič, Jernej Brecelj, Matjaž Fležar, Uroš Krivec

Source: Zdravniški Vestnik, Vol 84, Iss 3 (2015)

Subject Terms: diabetes mellitus, osteopenia, nutrition, cirrhosis, transition, Medicine

File Description: electronic resource

Relation: http://vestnik.szd.si/index.php/ZdravVest/article/view/1228; https://doaj.org/toc/1318-0347; https://doaj.org/toc/1581-0224

Access URL: https://doaj.org/article/655a146d4a66470f9e9cde1e29f7be67

Nutrition of lactating women in Slovenia

Authors: Andreja ŠIRCA-ČAMPA, Nataša FIDLER MIS, Irena HREN, Marjeta SEDMAK, Jernej BRECELJ, Ciril KRŽIŠNIK, Berthold KOLETZKO

Source: Acta Agriculturae Slovenica, Vol 82, Iss 2, Pp 135-142 (2003)

Subject Terms: human nutrition, lactating women, lactation, breast-feeding, dietary intake, recommendations, infant health, Agriculture

File Description: electronic resource

Relation: https://journals.uni-lj.si/aas/article/view/15277; https://doaj.org/toc/1854-1941

Access URL: https://doaj.org/article/3b82805b1a504d788a5e57ae723c7b3a

Sedation and analgesia for gastrointestinal endoscopy in children

Authors: Jernej Brecelj

Source: Zdravniški Vestnik, Vol 82, Iss 0 (2013)

Subject Terms: deep sedation, procedures, endoscopy, digestive system, pediatrics, Medicine

File Description: electronic resource

Relation: http://vestnik.szd.si/index.php/ZdravVest/article/view/704; https://doaj.org/toc/1318-0347; https://doaj.org/toc/1581-0224

Access URL: https://doaj.org/article/3dfc335a57724afdaf27944cb60cbfec

GUIDELINES FOR MANAGEMENT OF CHILDREN WITH CYSTIC FIBROSIS

Authors: Andreja Borinc Beden, Jernej Brecelj, Nina Bratanič, Matjaž Homan, Matjaž Homšak, Klemen Jenko, Anton Kening, Majda Oštir, Lidija Skočir, Andreja Širca Čampa

Source: Zdravniški Vestnik, Vol 77, Iss 10 (2008)

Subject Terms: Medicine

File Description: electronic resource

Relation: http://vestnik.szd.si/index.php/ZdravVest/article/view/506; https://doaj.org/toc/1318-0347; https://doaj.org/toc/1581-0224

Access URL: https://doaj.org/article/a6f20f24324a4faaa4a37da8aa8ea1a5

HEREDITARY FRUCTOSE INTOLERANCE – CASE REPORT

Authors: Jernej Brecelj, Gordana Logar-Car, Henrik Peče

Source: Zdravniški Vestnik, Vol 71, Iss 3 (2002)

Subject Terms: hereditary fructose intolerance, hepatopathy, children, fructose tolerance test, liver biopsy, Medicine

File Description: electronic resource

Relation: http://vestnik.szd.si/index.php/ZdravVest/article/view/1575; https://doaj.org/toc/1318-0347; https://doaj.org/toc/1581-0224

Access URL: https://doaj.org/article/2c3e129f71024978976dda0a9b632075