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2019 2
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2024 6

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14 results

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Page 1
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.
Ward LM, Glorieux FH, Whyte MP, Munns CF, Portale AA, Högler W, Simmons JH, Gottesman GS, Padidela R, Namba N, Cheong HI, Nilsson O, Mao M, Chen A, Skrinar A, Roberts MS, Imel EA. Ward LM, et al. J Clin Endocrinol Metab. 2022 Jul 14;107(8):e3241-e3253. doi: 10.1210/clinem/dgac296. J Clin Endocrinol Metab. 2022. PMID: 35533340 Free PMC article. Clinical Trial.
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F, Okhovat AA, Nilipour Y, Mroczek M, Straub V, Töpf A, Palibrk A, Peric S, Rakocevic Stojanovic V, Najmabadi H, Nafissi S. Fatehi F, et al. Eur J Neurol. 2020 Nov;27(11):2257-2266. doi: 10.1111/ene.14402. Epub 2020 Jul 24. Eur J Neurol. 2020. PMID: 32558070 Free PMC article.
Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study.
Portale AA, Ward L, Dahir K, Florenzano P, Ing SW, Jan de Beur SM, Martin RM, Meza-Martinez AI, Paloian N, Ashraf A, Dixon BP, Khan A, Langman C, Chen A, Wang C, Roberts MS, Tandon PK, Bedrosian C, Imel EA. Portale AA, et al. J Bone Miner Res. 2024 Sep 26;39(10):1493-1502. doi: 10.1093/jbmr/zjae127. J Bone Miner Res. 2024. PMID: 39151033 Free PMC article.
Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.
Glorieux FH, Langdahl B, Chapurlat R, De Beur SJ, Sutton VR, Poole KES, Dahir KM, Orwoll ES, Willie BM, Mikolajewicz N, Zimmermann E, Hosseinitabatabaei S, Ominsky MS, Saville C, Clancy J, MacKinnon A, Mistry A, Javaid MK. Glorieux FH, et al. J Bone Miner Res. 2024 Sep 2;39(9):1215-1228. doi: 10.1093/jbmr/zjae112. J Bone Miner Res. 2024. PMID: 39012717 Free PMC article. Clinical Trial.
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
De Giorgis V, Bhatia KP, Boespflug-Tanguy O, Gras D, Marina AD, Desurkar A, Toledo M, Miller I, Rotstein M, Schneider SA, Tarquinio DC, Weber Y, Brandabur M, Mayhew J, Koutsoukos T, De Vivo DC. De Giorgis V, et al. Mov Disord. 2024 Aug;39(8):1386-1396. doi: 10.1002/mds.29822. Epub 2024 May 9. Mov Disord. 2024. PMID: 38725190 Clinical Trial.
No effect of triheptanoin on exercise performance in McArdle disease.
Madsen KL, Laforêt P, Buch AE, Stemmerik MG, Ottolenghi C, Hatem SN, Raaschou-Pedersen DT, Poulsen NS, Atencio M, Luton MP, Ceccaldi A, Haller RG, Quinlivan R, Mochel F, Vissing J. Madsen KL, et al. Ann Clin Transl Neurol. 2019 Oct;6(10):1949-1960. doi: 10.1002/acn3.50863. Epub 2019 Sep 14. Ann Clin Transl Neurol. 2019. PMID: 31520525 Free PMC article. Clinical Trial.
14 results