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Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Among authors: beck nielsen ss. Eur J Med Genet. 2024 Jun;69:104937. doi: 10.1016/j.ejmg.2024.104937. Epub 2024 Apr 2. Eur J Med Genet. 2024. PMID: 38574886 Free article.
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. Ariceta G, et al. Among authors: beck nielsen ss. Orphanet J Rare Dis. 2023 Sep 27;18(1):304. doi: 10.1186/s13023-023-02882-4. Orphanet J Rare Dis. 2023. PMID: 37752558 Free PMC article.
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis.
M Boot A, Ariceta G, Beck-Nielsen SS, Brandi ML, Briot K, Collantes CL, Giannini S, Haffner D, Keen R, Levtchenko E, Mughal MZ, Makitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Emma F. M Boot A, et al. Among authors: beck nielsen ss. Ther Adv Chronic Dis. 2024 May 18;15:20406223241247643. doi: 10.1177/20406223241247643. eCollection 2024. Ther Adv Chronic Dis. 2024. PMID: 38764445 Free PMC article.
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients with X-Linked Hypophosphatemia.
Ali DS, Mirza RD, Alsarraf F, Hussein S, Abu Alrob H, Appelman-Dijkstra NM, Beck-Nielsen SS, Biosse-Duplan M, Brandi ML, Carpenter TO, Chaussain C, Cohen-Solal M, Crowley RK, Dandurand K, Florenzano P, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Imel EA, Jan de Beur SM, Lehman A, Lewiecki EM, Morgante E, Ward LM, Khan AA, Guyatt G. Ali DS, et al. Among authors: beck nielsen ss. J Clin Endocrinol Metab. 2024 Dec 23:dgae890. doi: 10.1210/clinem/dgae890. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39715351
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.
Brandi ML, Ariceta G, Beck-Nielsen SS, Boot AM, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Mughal MZ. Brandi ML, et al. Among authors: beck nielsen ss. Ther Adv Chronic Dis. 2022 Sep 5;13:20406223221117471. doi: 10.1177/20406223221117471. eCollection 2022. Ther Adv Chronic Dis. 2022. PMID: 36082134 Free PMC article.
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L. Louise M Binderup M, et al. Among authors: beck nielsen ss. Eur J Med Genet. 2022 Aug;65(8):104538. doi: 10.1016/j.ejmg.2022.104538. Epub 2022 Jun 13. Eur J Med Genet. 2022. PMID: 35709961 Free article.
44 results