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601

Trappsol®Cyclo™ and NPC: Efficacy shown across individual 5D domains and utilization of future assessment tools to demonstrate clinically relevant outcomes

Hastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Mohand, Patricia Pé rez; Ucar, Seema; Sharma, Reena; Smith, Nicholas J.C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph; ; (Molecular genetics and metabolism, v.144, 2025, pp.108757)
602

Gene-nutrient interactions in the metabolic syndrome: single nucleotide polymorphisms in ADIPOQ and ADIPOR1interact with plasma saturated fatty acids to modulate insulin resistance

Ferguson, Jane F; Phillips, Catherine M; Tierney, Audrey C; Pé rez-Martí nez, Pablo; Defoort, Catherine; Helal, Olfa; Lairon, Denis; Planells, Richard; Shaw, Danielle I; Lovegrove, Julie A; Gjelstad, Ingrid MF; Drevon, Christian A; Blaak, Ellen E; Saris, Wim HM; Leszczyń ska-Gołą bek, Iwona; Kiec-Wilk, Beata; Risé rus, Ulf; Karlströ m, Brita; Miranda, José Lopez-; Roche, Helen M; ; (The American journal of clinical nutrition, v.91, 2010, pp.794-801)
603

Trappsol® Cyclo™ (hpβCd) for the long-term treatment of Niemann Pick type C1: Efficacy and safety data from 4 clinical studies and the ongoing expanded access program

Hastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Martin-Hernandez, Elena; Ucar, Seema; Sharma, Reena; Smith, Nicholas J.C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph; ; (Molecular genetics and metabolism, v.144, 2025, pp.108756)
604

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Bednarek, Marcin; Trybus, Marek; Kolanowska, Monika; Koziej, Mateusz; Kiec‐ Wilk, Beata; Dobosz, Artur; Kotlarek‐ Łysakowska, Marta; Kubiak‐ Dydo, Anna; Uż arowska‐ Gą ska, Ewelina; Starę ga‐ Rosłan, Julia; Gaj, Paweł; Gó rzyń ska, Izabela; Serwan, Katarzyna; Ś wierniak, Michał; Kot, Adam; Jaż dż ewski, Krystian; Wó jcicka, Anna; 2nd Department of General Surgery Jagiellonian University Medical College Krakow Poland; 2nd Department of General Surgery Jagiellonian University Medical College Krakow Poland; Warsaw Genomics INC. Warszawa Poland; Department of Anatomy Jagiellonian University Medical College Krakó w Poland; 2nd Department of General Surgery Jagiellonian University Medical College Krakow Poland; Department of Medical Genetics Jagiellonian University Medical College Krakow Poland; Warsaw Genomics INC. Warszawa Poland; Warsaw Genomics INC. Warszawa Poland; Warsaw Genomics INC. Warszawa Poland; Warsaw Genomics INC. Warszawa Poland; Warsaw Genomics INC. Warszawa Poland; Warsaw Genomics INC. Warsza; (Molecular genetics & genomic medicine, v.9, 2021, pp.e1594)
605

Effects of dietary fat modification on insulin sensitivity and on other risk factors of the metabolic syndrome—LIPGENE: a European randomized dietary intervention study

Tierney, A C; McMonagle, J; Shaw, D I; Gulseth, H L; Helal, O; Saris, W H M; Paniagua, J A; Gołą bek-Leszczyñ ska, I; Defoort, C; Williams, C M; Karsltrö m, B; Vessby, B; Dembinska-Kiec, A; Ló pez-Miranda, J; Blaak, E E; Drevon, C A; Gibney, M J; Lovegrove, J A; Roche, H M; Nutrigenomics Research Group, UCD Conway Institute & UCD Institute of Food & Health, University College Dublin, Belfield, Dublin 4, Ireland; Nutrigenomics Research Group, UCD Conway Institute & UCD Institute of Food & Health, University College Dublin, Belfield, Dublin 4, Ireland; Hugh Sinclair Unit of Human Nutrition & Institute for Cardiovascular and Metabolic Research, University of Reading, Reading, UK; 1] Department of Endocrinology, Oslo University Hospital Aker, Oslo, Norway [2] Department of Nutrition, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway; INSERM, 476 Human Nutrition and Lipids, INRA, 1260, University Mé diterrané e Aix-Marseille 2, Faculty of Medicine, IPHM-IFR 125, Marseille, France; Department of Human Biology, Nutrition and Toxicology Research Institute Maastricht, Maastricht, The Netherlands; Lipid and Atherosclerosis Unit, Reina Sofia University Hospital, School of Medicine, University of Cordoba, CIB; (International journal of obesity : journal of the International Association for the Study of Obesity, v.35, 2011, pp.800-809)
606

NOS3 gene polymorphisms are associated with risk markers of cardiovascular disease, and interact with omega-3 polyunsaturated fatty acids

Ferguson, Jane F.; Phillips, Catherine M.; McMonagle, Jolene; Pé rez-Martí nez, Pablo; Shaw, Danielle I.; Lovegrove, Julie A.; Helal, Olfa; Defoort, Catherine; Gjelstad, Ingrid M.F.; Drevon, Christian A.; Blaak, Ellen E.; Saris, Wim H.M.; Leszczyń ska-Gołą bek, Iwona; Kiec-Wilk, Beata; Risé rus, Ulf; Karlströ m, Brita; Lopez-Miranda, Jose; Roche, Helen M.; Nutrigenomics Research Group, UCD School of Public Health and Population Science, UCD Conway Institute, University College Dublin, Dublin 4, Ireland; Nutrigenomics Research Group, UCD School of Public Health and Population Science, UCD Conway Institute, University College Dublin, Dublin 4, Ireland; Nutrigenomics Research Group, UCD School of Public Health and Population Science, UCD Conway Institute, University College Dublin, Dublin 4, Ireland; Lipid and Atherosclerosis Unit, Department of Medicine, Reina Sofia University Hospital, School of Medicine, University of Cordoba, CIBER Physiopathology of Obesity and Nutrition (CB06/03), Spain; Hugh Sinclair Unit of Human Nutrition, Department of Food and Nutritional Sciences, University of Reading, RG6 6AP, UK; Hugh Sinclair Unit of Human Nutrition, Department of Food and Nutritional Sciences, University of Reading, RG6 6AP, UK; INSERM, 476 Human Nutrition and Lipids, INRA, 1260, University Mé diterrané e Aix-Marseille 2,; (Atherosclerosis, v.211, 2010, pp.539-544)
607

Dual Piperidine-Based Histamine H3 and Sigma-1 Receptor Ligands in the Treatment of Nociceptive and Neuropathic Pain

Szczepań ska, Katarzyna; Karcz, Tadeusz; Dichiara, Maria; Mogilski, Szczepan; Kalinowska-Tłuś cik, Justyna; Pilarski, Bogusław; Leniak, Arkadiusz; Pietruś , Wojciech; Podlewska, Sabina; Popiołek-Barczyk, Katarzyna; Humphrys, Laura J.; Ruiz-Cantero, M. Carmen; Reiner-Link, David; Leitzbach, Luisa; Łaż ewska, Dorota; Pockes, Steffen; Gó rka, Michał; Zmysłowski, Adam; Calmels, Thierry; Cobos, Enrique J.; Marrazzo, Agostino; Stark, Holger; Bojarski, Andrzej J.; Amata, Emanuele; Kieć -Kononowicz, Katarzyna; Department of Technology and Biotechnology of Drugs, Faculty of Pharmacy , Jagiellonian University Medical College , Medyczna 9 , 30-688 Krakó w , Poland; Department of Drug and Health Sciences , University of Catania , V.le A. Doria , 95125 Catania , Italy; Department of Pharmacodynamics, Faculty of Pharmacy , Jagiellonian University Medical College , Medyczna 9 , 30-688 Krakó w , Poland; Department of Crystal Chemistry and Crystal Physics, Faculty of Chemistry , Jagiellonian University , Gronostajowa 2 , 30-387 Krakó w , Poland; Cerko Sp. z o.o. Sp.k , Al. Zwycię stwa 96/98 , 81-451 Gdynia , Poland; Celon Pharma S.A., R&D Centre , Marymoncka 15 , 05-152 Kazuń Nowy , Poland; Department of Medicinal Chemistry , Maj Institute of Pharmacology, Polish Academy of Sciences , Smę tna 12 , 31; (Journal of medicinal chemistry, v.66, 2023, pp.9658-9683)
608

The European baseline series in 10 European Countries, 2005/2006 – Results of the European Surveillance System on Contact Allergies (ESSCA)

Uter, Wolfgang; Rä msch, Christiane; Aberer, Werner; Ayala, Fabio; Balato, Anna; Beliauskiene, Aiste; Fortina, Anna Belloni; Bircher, Andreas; Brasch, Jochen; Chowdhury, Mahbub M. U.; Coenraads, Pieter-Jan; Schuttelaar, Marie-Louise; Cooper, Sue; Corradin, Maria Teresa; Elsner, Peter; English, John S. C.; Fartasch, Manigè ; Mahler, Vera; Frosch, Peter J.; Fuchs, Thomas; Gawkrodger, David J.; Gimè nez-Arnau, Ana-Maria; Green, Cathy M.; Horne, Helen L.; Jolanki, Riitta; King, Codagh M.; Krê cisz, Beata; Kiec-Swierczynska, Marta; Ormerod, Anthony D.; Orton, David I.; Peserico, Andrea; Rantanen, Tapio; Rustemeyer, Thomas; Sansom, Jane E.; Simon, Dagmar; Statham, Barry N.; Wilkinson, Mark; Schnuch, Axel; Dept. of Med. Informatics, Biometry & Epidemiology, University of Erlangen-Nü rnberg, Erlangen, Germany; Dept. of Med. Informatics, Biometry & Epidemiology, University of Erlangen-Nü rnberg, Erlangen, Germany; Dept. of Dermatology, Medical University of Graz, Austria; Dept. of Dermatology, Universita di Napoli Federico II, Napoli, Italy; Dept. of Dermatology, Universita di Napoli Federico II, Napoli, Italy; Dept. of Skin and Venereal Diseases, Kaunas University of Medicine, Kaunas, Lithuania; Dermatology Unit, Dept. of Pediatrics, University of Padova, Italy; Dept. of Dermatology, Allergy Unit, University Hospital Basel, Switzerland; Dept. of Dermatology, University of Schleswig-Holstein, Campus Kiel, Germany; The Welsh Institute of Dermatology, University Hospital of Wales, Cardiff, U.K.; Dept. of Dermatology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands; Dept. of Dermatology, University Medical Centre Groningen, Universit; (Contact dermatitis, v.61, 2009, pp.31-38)
609

Occupational skin diseases: actual state analysis of patient management pathways in 28 European countries

Mahler, V.; Aalto‐ Korte, K.; Alfonso, J.H.; Bakker, J.G.; Bauer, A.; Bensefa‐ Colas, L.; Boman, A.; Bourke, J.; Bubaš , M.; Bulat, P.; Chaloupka, J.; Constandt, L.; Danielsen, T.E.; Darlenski, R.; Dugonik, A.; Ettler, K.; Gimenez‐ Arnau, A.; Gonç alo, M.; Johansen, J.D.; John, S.M.; Kiec‐ Swierczynska, M.; Koch, P.; Kohá nka, V.; Krecisz, B.; Larese Filon, F.; Ljubojević , S.; Macan, J.; Marinović , B.; Matura, M.; Mihatsch, P.W.; Mijakoski, D.; Minov, J.; Pace, J.; Pesonen, M.; Ramada Rodilla, J.M.; Rast, H.; Reljic, V.; Salavastru, C.; Schuster, C.; Schuttelaar, M.L.; Simon, D.; Spiewak, R.; Jurakic Tonč ić , R.; Urbanč ek, S.; Valiukevič ienė , S.; Weinert, P.; Wilkinson, M.; Uter, W.; Department of Dermatology, University Hospital of Erlangen, Friedrich‐ Alexander University Erlangen‐ Nuremberg, Erlangen, Germany; Finnish Institute of Occupational Health, Helsinki, Finland; Department of Occupational Medicine and Epidemiology, National Institute of Occupational Health, Oslo, Norway; National Center of Occupational Diseases Coronel Institute AMC, Amsterdam, The Netherlands; Department of Dermatology, University Allergy Centre, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany; Unit of Occupational and Environmental Diseases, Hô tel‐ Dieu Hospital Group, APHP, EA 4064 Environmental and Public Health Laboratory, Paris, France; Unit of Occupational and Environmental Dermatology, Ins; (Journal of the European Academy of Dermatology and Venereology : JEADV, v.31, 2017, pp.12-30)
610

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

Parenti, Giancarlo; Fecarotta, Simona; Alagia, Marianna; Attaianese, Federica; Verde, Alessandra; Tarallo, Antonietta; Gragnaniello, Vincenza; Ziagaki, Athanasia; Guimaraes, Maria Jose’; Aguiar, Patricio; Hahn, Andreas; Azevedo, Olga; Donati, Maria Alice; Kiec-Wilk, Beata; Scarpa, Maurizio; van der Beek, Nadine A. M. E.; Del Toro Riera, Mireja; Germain, Dominique P.; Huidekoper, Hidde; van den Hout, Johanna M. P.; van der Ploeg, Ans T.; Baric, Ivo; Batzios, Spyros; Belmatoug, Nadia; Bordugo, Andrea; Bosch, Annet M.; Brassier, Anais; Burlina, Alberto; Cassiman, David; Chabrol, Brigitte; Chronopoulou, Efstathia; Couce-Pico, Maria Luz; Darin, Niklas; Das, Anibh M.; Debray, Francois G.; Deegan, Patrick; de Abreu Freire Diogo Matos, Luisa M.; De Las Heras Montero, Javier; Di Rocco, Maja; Dobbelaere, Dries; Eyskens, Francois; Ferreira, Ana; Gaspar, Ana M.; Gasperini, Serena; Ló pez, Antonio Gonzá lez-Meneses; Grosso, Salvatore; Guff; ; (Orphanet journal of rare diseases, v.19, 2024, pp.408)

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