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614 results

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Page 1
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: lehman a. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: lehman a. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A. Almarzooqi F, et al. Among authors: lehman a. Acta Haematol. 2023;146(3):220-225. doi: 10.1159/000529311. Epub 2023 Feb 10. Acta Haematol. 2023. PMID: 36774923
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
Stepien KM, Langendonk JG, Dao M, Gomes DC, Douillard C, Filipsson K, Glamuzina E, Haverkamp JA, Langeveld M, Lehman A, de Lonlay P, Lund AM, Oscarson M, Peltenburg NC, Ramadža DP, Ramachandran R, Reismann P, Shtylla A, Tchan M, Tan CY, Wilson C, Woodall A, Murphy E, Wagenmakers MAEM. Stepien KM, et al. Among authors: lehman a. J Inherit Metab Dis. 2024 Nov;47(6):1239-1259. doi: 10.1002/jimd.12695. Epub 2023 Dec 9. J Inherit Metab Dis. 2024. PMID: 38069502 Review.
Analysis of the interaction between sleep quantity and sex in neurocognitive performance testing for sports-related concussion.
Kalagara R, Hrabarchuk EI, Ezzat B, Asfaw ZK, Rao A, Schupper AJ, Zhang J, Rodriguez B, Ali M, Quinones A, Carr MT, Qureshi HM, Lehman AB, Gometz A, Lovell M, Choudhri TF. Kalagara R, et al. Among authors: lehman ab. J Neurosurg Pediatr. 2025 May 9:1-8. doi: 10.3171/2025.2.PEDS24208. Online ahead of print. J Neurosurg Pediatr. 2025. PMID: 40344767
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.
Khan AA, Ali DS, Appelman-Dijkstra NM, Carpenter TO, Chaussain C, Imel EA, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Cohen-Solal M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Ward LM, Guyatt G, Brandi ML. Khan AA, et al. Among authors: lehman a. J Clin Endocrinol Metab. 2025 Apr 17:dgaf170. doi: 10.1210/clinem/dgaf170. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 40243526
Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults.
Ali DS, Khan AA, Mirza RD, Appelman-Dijkstra NM, Brandi ML, Carpenter TO, Chaussain C, Imel EA, de Beur SMJ, Florenzano P, Morrison A, Alrob HA, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Cohen-Solal M, Crowley RK, Dandurand K, Filler G, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Morgante E, Portale AA, Rhee Y, Siggelkow H, Tosi L, Ward LM, Guyatt G. Ali DS, et al. Among authors: lehman a. J Bone Miner Metab. 2025 May;43(3):193-202. doi: 10.1007/s00774-025-01585-z. Epub 2025 Mar 21. J Bone Miner Metab. 2025. PMID: 40119067
Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience.
Ali DS, Alsarraf F, Alrob HA, Alexander RT, Almoulia A, Appelman-Dijkstra NM, Beck-Nielsen SS, Biosse-Duplan M, Brandi ML, Carpenter TO, Chaussain C, Cohen-Solal M, Crowley RK, Dandurand K, Florenzano P, Gagnon C, Goodyer P, Grimbly C, Hussein S, Imel EA, Jan de Beur SM, Javaid MK, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Portale AA, Rhee Y, Siggelkow H, Tosi LL, Ward LM, Guyatt G, Khan AA. Ali DS, et al. Among authors: lehman a. J Clin Endocrinol Metab. 2025 Jun 17;110(7):e2347-e2361. doi: 10.1210/clinem/dgaf180. J Clin Endocrinol Metab. 2025. PMID: 40111179 Free PMC article.
614 results