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191 results

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Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.
Cunningham SC, van Dijk EB, Zhu E, Sugden M, Mandwie M, Siew S, Devanapalli B, Tolun AA, Klein A, Wilson L, Aryamanesh N, Gissen P, Baruteau J, Bhattacharya K, Alexander IE. Cunningham SC, et al. Among authors: gissen p. Hum Gene Ther. 2023 Sep;34(17-18):917-926. doi: 10.1089/hum.2023.011. Epub 2023 Sep 11. Hum Gene Ther. 2023. PMID: 37350098
Fetal gene therapy.
Waddington SN, Peranteau WH, Rahim AA, Boyle AK, Kurian MA, Gissen P, Chan JKY, David AL. Waddington SN, et al. Among authors: gissen p. J Inherit Metab Dis. 2024 Jan;47(1):192-210. doi: 10.1002/jimd.12659. Epub 2023 Aug 7. J Inherit Metab Dis. 2024. PMID: 37470194 Review.
Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
Nickel M, Gissen P, Greenaway R, Cappelletti S, Hamborg C, Ragni B, Ribitzki T, Schulz A, Tondo I, Specchio N. Nickel M, et al. Among authors: gissen p. Neuropediatrics. 2023 Dec;54(6):402-406. doi: 10.1055/s-0043-1770143. Epub 2023 Jun 17. Neuropediatrics. 2023. PMID: 37329878 Free PMC article.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: gissen p. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J. Gurung S, et al. Among authors: gissen p. Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198573 Free PMC article.
Liver-directed gene therapy for inherited metabolic diseases.
Baruteau J, Brunetti-Pierri N, Gissen P. Baruteau J, et al. Among authors: gissen p. J Inherit Metab Dis. 2024 Jan;47(1):9-21. doi: 10.1002/jimd.12709. Epub 2024 Jan 3. J Inherit Metab Dis. 2024. PMID: 38171926 Review.
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward SC, Chakrapani A, Schwering C, Wibbeler E, Westermann LM, Ballon DJ, Dyke JP, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J. Schulz A, et al. Among authors: gissen p. Lancet Neurol. 2024 Jan;23(1):60-70. doi: 10.1016/S1474-4422(23)00384-8. Lancet Neurol. 2024. PMID: 38101904
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Seker Yilmaz B, Baruteau J, Chakrapani A, Champion M, Chronopoulou E, Claridge LC, Daly A, Davies C, Davison J, Dhawan A, Grunewald S, Gupte GL, Heaton N, Lemonde H, McKiernan P, Mills P, Morris AAM, Mundy H, Pierre G, Rajwal S, Sivananthan S, Sreekantam S, Stepien KM, Vara R, Yeo M, Gissen P. Seker Yilmaz B, et al. Among authors: gissen p. Mol Genet Metab Rep. 2023 Nov 5;37:101020. doi: 10.1016/j.ymgmr.2023.101020. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053940 Free PMC article.
191 results