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154 results

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Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
Balwani M, Sardh E, Ventura P, Peiró PA, Rees DC, Stölzel U, Bissell DM, Bonkovsky HL, Windyga J, Anderson KE, Parker C, Silver SM, Keel SB, Wang JD, Stein PE, Harper P, Vassiliou D, Wang B, Phillips J, Ivanova A, Langendonk JG, Kauppinen R, Minder E, Horie Y, Penz C, Chen J, Liu S, Ko JJ, Sweetser MT, Garg P, Vaishnaw A, Kim JB, Simon AR, Gouya L; ENVISION Investigators. Balwani M, et al. N Engl J Med. 2020 Jun 11;382(24):2289-2301. doi: 10.1056/NEJMoa1913147. N Engl J Med. 2020. PMID: 32521132 Clinical Trial.
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
Blauwendraat C, Tayebi N, Woo EG, Lopez G, Fierro L, Toffoli M, Limbachiya N, Hughes D, Pitz V, Patel D, Vitale D, Koretsky MJ, Hernandez D, Real R, Alcalay RN, Nalls MA, Morris HR, Schapira AHV, Balwani M, Sidransky E. Blauwendraat C, et al. Among authors: balwani m. Mov Disord. 2023 May;38(5):899-903. doi: 10.1002/mds.29342. Epub 2023 Mar 3. Mov Disord. 2023. PMID: 36869417 Free PMC article.
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Balwani M, et al. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340. Mol Med. 2013. PMID: 23364466 Free PMC article.
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Yasuda M, et al. Among authors: balwani m. Mol Med. 2015 Jun 5;21(1):487-95. doi: 10.2119/molmed.2015.00099. Mol Med. 2015. PMID: 26062020 Free PMC article.
Afamelanotide for Erythropoietic Protoporphyria.
Langendonk JG, Balwani M, Anderson KE, Bonkovsky HL, Anstey AV, Bissell DM, Bloomer J, Edwards C, Neumann NJ, Parker C, Phillips JD, Lim HW, Hamzavi I, Deybach JC, Kauppinen R, Rhodes LE, Frank J, Murphy GM, Karstens FPJ, Sijbrands EJG, de Rooij FWM, Lebwohl M, Naik H, Goding CR, Wilson JHP, Desnick RJ. Langendonk JG, et al. Among authors: balwani m. N Engl J Med. 2015 Jul 2;373(1):48-59. doi: 10.1056/NEJMoa1411481. N Engl J Med. 2015. PMID: 26132941 Free PMC article. Clinical Trial.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
Burton BK, Balwani M, Feillet F, Barić I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sánchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG. Burton BK, et al. Among authors: balwani m. N Engl J Med. 2015 Sep 10;373(11):1010-20. doi: 10.1056/NEJMoa1501365. N Engl J Med. 2015. PMID: 26352813 Free article. Clinical Trial.
Acute hepatic porphyrias: Recommendations for evaluation and long-term management.
Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Balwani M, et al. Hepatology. 2017 Oct;66(4):1314-1322. doi: 10.1002/hep.29313. Epub 2017 Sep 4. Hepatology. 2017. PMID: 28605040 Free PMC article. Review.
154 results