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1 |
Material Type: Article
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Burosumab Therapy in Children with X-Linked HypophosphatemiaCarpenter, Thomas O ; Whyte, Michael P ; Imel, Erik A ; Boot, Annemieke M ; Högler, Wolfgang ; Linglart, Agnès ; Padidela, Raja ; van’t Hoff, William ; Mao, Meng ; Chen, Chao-Yin ; Skrinar, Alison ; Kakkis, Emil ; San Martin, Javier ; Portale, Anthony AThe New England journal of medicine, 2018-05-24, Vol.378 (21), p.1987-1998 [Peer Reviewed Journal]United States: Massachusetts Medical SocietyFull text available online |
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Material Type: Article
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Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopeniaGerrits, Anja J ; Leven, Emily A ; Frelinger, 3rd, Andrew L ; Brigstocke, Sophie L ; Berny-Lang, Michelle A ; Mitchell, W Beau ; Revel-Vilk, Shoshana ; Tamary, Hannah ; Carmichael, Sabrina L ; Barnard, Marc R ; Michelson, Alan D ; Bussel, James BBlood, 2015-09-10, Vol.126 (11), p.1367-1378 [Peer Reviewed Journal]United States: American Society of HematologyFull text available online |
3 |
Material Type: Article
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Inhibition of Btk by Btk-specific concentrations of ibrutinib and acalabrutinib delays but does not block platelet aggregation mediated by glycoprotein VINicolson, Phillip L R ; Hughes, Craig E ; Watson, Stephanie ; Nock, Sophie H ; Hardy, Alexander T ; Watson, Callum N ; Montague, Samantha J ; Clifford, Hayley ; Huissoon, Aarnoud P ; Malcor, Jean-Daniel ; Thomas, Mark R ; Pollitt, Alice Y ; Tomlinson, Michael G ; Pratt, Guy ; Watson, Steve PHaematologica (Roma), 2018-12, Vol.103 (12), p.2097-2108 [Peer Reviewed Journal]Italy: Ferrata Storti FoundationFull text available online |
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IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical ManagementJoustra, S. D ; Heinen, C. A ; Schoenmakers, N ; Bonomi, M ; Ballieux, B. E. P. B ; Turgeon, M.-O ; Bernard, D. J ; Fliers, E ; van Trotsenburg, A. S. P ; Losekoot, M ; Persani, L ; Wit, J. M ; Biermasz, N. R ; Pereira, A. M ; Oostdijk, WThe journal of clinical endocrinology and metabolism, 2016-04, Vol.101 (4), p.1627-1636 [Peer Reviewed Journal]United States: Endocrine SocietyFull text available online |
5 |
Material Type: Article
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Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX TrialHoffman, Dennis R ; Hughbanks-Wheaton, Dianna K ; Spencer, Rand ; Fish, Gary E ; Pearson, N Shirlene ; Wang, Yi-Zhong ; Klein, Martin ; Takacs, Alison ; Locke, Kirsten G ; Birch, David GInvestigative ophthalmology & visual science, 2015-10, Vol.56 (11), p.6646-6653 [Peer Reviewed Journal]United States: The Association for Research in Vision and OphthalmologyFull text available online |
6 |
Material Type: Article
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Atypical femur fracture in an adolescent boy treated with bisphosphonates for X-linked osteoporosis based on PLS3 mutationvan de Laarschot, Denise M., BSc ; Zillikens, M. Carola, MD, PhDBone (New York, N.Y.), 2016, Vol.91, p.148-151 [Peer Reviewed Journal]United States: Elsevier IncFull text available online |
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Material Type: Article
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Assessment of TRPM7 functions by drug-like small moleculesChubanov, Vladimir ; Ferioli, Silvia ; Gudermann, ThomasCell calcium (Edinburgh), 2017, Vol.67, p.166-173 [Peer Reviewed Journal]Netherlands: Elsevier LtdFull text available online |
8 |
Material Type: Article
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Treatment of chronic enterovirus encephalitis with fluoxetine in a patient with X-linked agammaglobulinemiaGofshteyn, Jacqueline ; Cárdenas, Ana María ; Bearden, David, MDPediatric neurology, 2016, Vol.64, p.94-98 [Peer Reviewed Journal]United States: Elsevier IncFull text available online |
9 |
Material Type: Article
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Long-Term Efficacy and Safety of Hizentra® in Patients with Primary Immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 TrialsJolles, Stephen ; Rojavin, Mikhail A ; Lawo, John-Philip ; Nelson Jr, Robert ; Wasserman, Richard L ; Borte, Michael ; Tortorici, Michael A ; Imai, Kohsuke ; Kanegane, HirokazuJournal of clinical immunology, 2018-11, Vol.38 (8), p.864-875 [Peer Reviewed Journal]New York: Springer USFull text available online |
10 |
Material Type: Article
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A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidusLi, Jian Hua ; Chou, Chung-Lin ; Li, Bo ; Gavrilova, Oksana ; Eisner, Christoph ; Schnermann, Jürgen ; Anderson, Stasia A ; Deng, Chu-Xia ; Knepper, Mark A ; Wess, JürgenThe Journal of clinical investigation, 2009-10, Vol.119 (10), p.3115-3126 [Peer Reviewed Journal]United States: American Society for Clinical InvestigationFull text available online |
11 |
Material Type: Article
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Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulbRedolfi, Nelly ; Galla, Luisa ; Maset, Andrea ; Murru, Luca ; Savoia, Eleonora ; Zamparo, Ilaria ; Gritti, Angela ; Billuart, Pierre ; Passafaro, Maria ; Lodovichi, ClaudiaHuman molecular genetics, 2016-12-01, Vol.25 (23), p.5198-5211 [Peer Reviewed Journal]EnglandFull text available online |
12 |
Material Type: Article
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Curcumin attenuates the scurfy-induced immune disorder, a model of IPEX syndrome, with inhibiting Th1/Th2/Th17 responses in miceLee, Gihyun ; Chung, Hwan-Suck ; Lee, Kyeseok ; Lee, Hyeonhoon ; Kim, Minhwan ; Bae, HyunsuPhytomedicine (Stuttgart), 2017-09-15, Vol.33, p.1-6 [Peer Reviewed Journal]Germany: Elsevier GmbHFull text available online |
13 |
Material Type: Article
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Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR)Rothenbuhler, Anya ; Esterle, Laure ; Gueorguieva, Iva ; Salles, Jean-Pierre ; Mignot, Brigitte ; Colle, Michel ; Linglart, AgnesGrowth hormone & IGF research, 2017-10, Vol.36, p.11-15 [Peer Reviewed Journal]Scotland: Elsevier LtdFull text available online |
14 |
Material Type: Article
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Safety assessment of docosahexaenoic acid in X-linked retinitis pigmentosa: the 4-year DHAX trialHughbanks-Wheaton, Dianna K ; Birch, David G ; Fish, Gary E ; Spencer, Rand ; Pearson, N Shirlene ; Takacs, Alison ; Hoffman, Dennis RInvestigative ophthalmology & visual science, 2014-07-11, Vol.55 (8), p.4958-4966 [Peer Reviewed Journal]United States: The Association for Research in Vision and OphthalmologyFull text available online |
15 |
Material Type: Article
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Inhibitors of BTK and ITK: State of the New Drugs for Cancer, Autoimmunity and Inflammatory DiseasesVargas, L ; Hamasy, A ; Nore, B. F ; E. Smith, C. IScandinavian journal of immunology, 2013-08, Vol.78 (2), p.130-139 [Peer Reviewed Journal]England: Wiley Subscription Services, IncFull text available online |
16 |
Material Type: Article
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Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patientsFratz-Berilla, Erica J ; Breydo, Leonid ; Gouya, Laurent ; Puy, Hervé ; Uversky, Vladimir N ; Ferreira, Gloria CBiochimica et biophysica acta. Molecular basis of disease, 2017-02, Vol.1863 (2), p.428-439 [Peer Reviewed Journal]Netherlands: Elsevier B.VFull text available online |
17 |
Material Type: Article
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Efficacy and safety of Gammaplex® 5% in children and adolescents with primary immunodeficiency diseasesMelamed, I. R ; Gupta, S ; Stratford Bobbitt, M ; Hyland, N ; Moy, J. NClinical and experimental immunology, 2016-05, Vol.184 (2), p.228-236 [Peer Reviewed Journal]England: Wiley Subscription Services, IncFull text available online |
18 |
Material Type: Article
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Kawasaki disease and immunodeficiencies in children: case reports and literature reviewRivas-Larrauri, Francisco ; Aguilar-Zanela, Lorena ; Castro-Oteo, Paola ; Rosales-Hernandez, Luis Adrian ; Otero-Mendoza, Francisco ; López-Herrera, Gabriela ; Ordoñez-Ortega, Javier ; Garrido-García, Martín ; Yamazaki-Nakashimada, Marco AntonioRheumatology international, 2019-10, Vol.39 (10), p.1829-1838 [Peer Reviewed Journal]Berlin/Heidelberg: Springer Berlin HeidelbergFull text available online |
19 |
Material Type: Article
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Secondary resistance to tolvaptan in two patients with SIAD due to small cell lung cancerGarrahy, A ; Garrahy, A ; Hannon, A M ; Hannon, A M ; Zia-Ul-Hussnain, H M ; Zia-Ul-Hussnain, H M ; Williams, D J ; Williams, D J ; Thompson, C J ; Thompson, C JEuropean journal of clinical pharmacology, 2018-02, Vol.74 (2), p.245-246 [Peer Reviewed Journal]Berlin/Heidelberg: Springer Berlin HeidelbergFull text available online |
20 |
Material Type: Article
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Recombinant growth hormone therapy for X-linked hypophosphatemia in childrenHuiming, Y ; Chaomin, WCochrane database of systematic reviews, 2005-01-25 (1), p.CD004447-CD004447 [Peer Reviewed Journal]EnglandFull text available online |