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Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
Backeljauw PF, Andrews M, Bang P, Dalle Molle L, Deal CL, Harvey J, Langham S, Petriczko E, Polak M, Storr HL, Dattani MT. Backeljauw PF, et al. Among authors: storr hl. Orphanet J Rare Dis. 2023 Oct 7;18(1):312. doi: 10.1186/s13023-023-02928-7. Orphanet J Rare Dis. 2023. PMID: 37805563 Free PMC article. Review.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. Prasad R, et al. Among authors: storr hl. J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165343 Free PMC article.
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.
Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U, Ziegler CG, Storr HL, Druce MR, Gevers EF, Drake WM, Srirangalingam U, Conway GS, King PJ, Metherell LA, Bornstein SR, Guasti L. Ruiz-Babot G, et al. Among authors: storr hl. Cell Rep. 2018 Jan 30;22(5):1236-1249. doi: 10.1016/j.celrep.2018.01.003. Cell Rep. 2018. PMID: 29386111 Free PMC article.
Diagnosis and treatment of Cushing's disease in children.
Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB, Storr HL. Savage MO, et al. Among authors: storr hl. Endocr Dev. 2010;17:134-145. doi: 10.1159/000262535. Epub 2009 Nov 24. Endocr Dev. 2010. PMID: 19955763 Review.
95 results