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24 results

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Page 1
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study.
van Spronsen F, Peters H, Margvelashvili L, Agladze D, Schwartz IVD, Giżewska M, Hamazaki T, Guilder L, MacDonald A, Vijay S, Inwood A, Minami M, Fjellbirkeland O, Lund A, Lah M, Thomas JA, Longo N, Kiykim E, Ishige M, Burlina A, Bélanger-Quintana A, Rutsch F, Opladen T, Mungan H, Ezgü F, Bratkovic D, Chakrapani A, Ito T, Guimas A, Zori R, Tchan M, Sacharow S, Oliveira A, Janeiro P, Guerra IC, Plana JC, Yıldız Y, Canda E, Khan A, Vockley J, Breilyn MS, Manti F, Larkin A, Hughes C, Liu E, Gao L, Ingalls K, Smith N, Muntau AC. van Spronsen F, et al. Among authors: lah m. Genet Med. 2026 Jan 12:101683. doi: 10.1016/j.gim.2026.101683. Online ahead of print. Genet Med. 2026. PMID: 41537382 Free article.
Diazoxide Choline Extended-Release Tablets in Prader-Willi Syndrome: A Randomized, Double-Blind, Withdrawal Period Study.
Miller JL, Bridges N, Felner EI, Salehi P, Yanovski JA, Stevenson DA, Mejia-Corletto J, Shaikh MG, Abuzzahab J, Fleischman A, Kimonis V, Shoemaker AH, Holland A, Bird LM, Obrynba KS, Lah M, Littlejohn E, Harwood K, Shea H, Viskochil D, Hirano P, Yen K, Ballal S, Huang M, Cowen NM, Bhatnagar A, Gevers E. Miller JL, et al. Among authors: lah m. J Clin Endocrinol Metab. 2026 Jan 2:dgaf661. doi: 10.1210/clinem/dgaf661. Online ahead of print. J Clin Endocrinol Metab. 2026. PMID: 41482637
Lessons learned from 5 years of pegvaliase in US clinics: A case series.
Cooney E, Ammous Z, Bender T, Clague GE, Clifford M, Crutcher A, Davis-Keppen L, Havens K, Lah M, Sacharow S, Sanchez-Valle A, Vucko E, Wardley B, Wessenberg L, Andersson HC. Cooney E, et al. Among authors: lah m. Mol Genet Metab Rep. 2024 Dec 26;42:101181. doi: 10.1016/j.ymgmr.2024.101181. eCollection 2025 Mar. Mol Genet Metab Rep. 2024. PMID: 39816990 Free PMC article.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Among authors: lah m. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: lah md. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study.
Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Goldstone AP, Wilding J, Lah M, Shaikh MG, Littlejohn E, Abuzzahab MJ, Fleischman A, Hirano P, Yen K, Cowen NM, Bhatnagar A; C601/C602 Investigators. Miller JL, et al. Among authors: lah m. Obesity (Silver Spring). 2024 Feb;32(2):252-261. doi: 10.1002/oby.23928. Epub 2023 Nov 2. Obesity (Silver Spring). 2024. PMID: 37919617 Free PMC article.
24 results