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Items: 1 to 20 of 281

1.
Yutaka Horie, Yuka Yasuoka, Tomohide Adachi
Orphanet J Rare Dis. 2023; 18: 384. Published online 2023 Dec 8. doi: 10.1186/s13023-023-02913-0
PMCID:
PMC10704654
2.
Chengyuan Song, Yuan Liu
Sci Rep. 2023; 13: 21330. Published online 2023 Dec 4. doi: 10.1038/s41598-023-48824-9
PMCID:
PMC10694128
3.
Balu Bhasuran, Katharina Schmolly, Yuvraaj Kapoor, Nanditha Lakshmi Jayakumar, Raymond Doan, Jigar Amin, Stephen Meninger, Nathan Cheng, Robert Deering, Karl Anderson, Simon W. Beaven, Bruce Wang, Vivek A. Rudrapatna
Version 1. medRxiv. Preprint. 2023 Aug 31. doi: 10.1101/2023.08.30.23293130
PMCID:
PMC10491361
4.
Bruce Wang, Herbert L. Bonkovsky, Joseph K. Lim, Manisha Balwani
Gastroenterology.
Published in final edited form as: Gastroenterology. 2023 Mar; 164(3): 484–491. Published online 2023 Jan 13. doi: 10.1053/j.gastro.2022.11.034
PMCID:
PMC10335308
5.
Jongtae Lee, Megan Melch, Gabriel J. Robbie
CPT Pharmacometrics Syst Pharmacol. 2023 Jun; 12(6): 842–852. Published online 2023 Mar 23. doi: 10.1002/psp4.12957
PMCID:
PMC10272304
6.
Elena Pischik, Katrin Baumann, Alla Karpenko, Raili Kauppinen
J Neurol. 2023; 270(5): 2613–2630. Published online 2023 Feb 9. doi: 10.1007/s00415-023-11586-5
PMCID:
PMC10129990
7.
Tanyel Zübarioğlu, Ertuğrul Kıykım, Çiğdem Aktuğlu-Zeybek
Turk Arch Pediatr. 2023 Jan; 58(1): 3–9. Published online 2023 Jan 1. doi: 10.5152/TurkArchPediatr.2022.22301
PMCID:
PMC9885782
8.
Amy Dickey, Kristen Wheeden, Desiree Lyon, Sue Burrell, Sean Hegarty, Rocco Falchetto, Edrin R. Williams, Jasmin Barman‐Aksözen, Marc DeCongelio, Alison Bulkley, Joana E. Matos, Tarek Mnif, Jordanna Mora, John J. Ko, Stephen Meninger, Stephen Lombardelli, Danielle Nance
JIMD Rep. 2023 Jan; 64(1): 104–113. Published online 2022 Oct 18. doi: 10.1002/jmd2.12343
PMCID:
PMC9830021
9.
Yutaka Horie, Yuka Yasuoka, Tomohide Adachi
JIMD Rep. 2023 Jan; 64(1): 71–78. Published online 2022 Oct 13. doi: 10.1002/jmd2.12336
PMCID:
PMC9830008
10.
David Cassiman, Raili Kauppinen, Susana Monroy, Ming‐Jen Lee, Herbert L. Bonkovsky, Manish Thapar, Encarna Guillén‐Navarro, Anna‐Elisabeth Minder, Cecilia Hale, Marianne T. Sweetser, Aneta Ivanova
J Inherit Metab Dis. 2022 Nov; 45(6): 1163–1174. Published online 2022 Sep 18. doi: 10.1002/jimd.12551
PMCID:
PMC9825970
11.
Mohamed Kazamel, Elena Pischik, Robert J. Desnick
Front Neurol. 2022; 13: 1004125. Published online 2022 Nov 21. doi: 10.3389/fneur.2022.1004125
PMCID:
PMC9719963
12.
Daniel Jericó, Karol M. Córdoba, Ana Sampedro, Lei Jiang, Gilles Joucla, Charlotte Cabanne, José Luis Lanciego, Paolo G. V. Martini, Pedro Berraondo, Matías A. Ávila, Antonio Fontanellas
Life (Basel) 2022 Nov; 12(11): 1858. Published online 2022 Nov 11. doi: 10.3390/life12111858
PMCID:
PMC9694773
13.
Christopher D. Ma, Herbert L. Bonkovsky
Front Pharmacol. 2022; 13: 953961. Published online 2022 Sep 6. doi: 10.3389/fphar.2022.953961
PMCID:
PMC9485715
14.
Christopher D. Ma, Herbert L. Bonkovsky
Mol Genet Metab Rep. 2022 Dec; 33: 100915. Published online 2022 Sep 7. doi: 10.1016/j.ymgmr.2022.100915
PMCID:
PMC9465260
15.
Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani
Orphanet J Rare Dis. 2022; 17: 327. Published online 2022 Aug 26. doi: 10.1186/s13023-022-02463-x
PMCID:
PMC9419398
16.
Kristen Wheeden, Desiree Lyon Howe, Sue Burrell, Liz Gill, John Chamberlayne, Edrin R. Williams, Amy Simon, John J. Ko, Jordanna Mora, Ted Wells, Christopher Evans, Maggie Paulich, Stephen Meninger, Stephen Lombardelli
Adv Ther. 2022; 39(9): 4330–4345. Published online 2022 Jul 30. doi: 10.1007/s12325-022-02172-8
PMCID:
PMC9402748
17.
Mattias Lissing, Daphne Vassiliou, Ylva Floderus, Pauline Harper, Matteo Bottai, Marianna Kotopouli, Hannes Hagström, Eliane Sardh, Staffan Wahlin
J Intern Med. 2022 Jun; 291(6): 824–836. Published online 2022 Mar 2. doi: 10.1111/joim.13463
PMCID:
PMC9311710
18.
Paolo Ventura, Herbert L. Bonkovsky, Laurent Gouya, Paula Aguilera‐Peiró, D. Montgomery Bissell, Penelope E. Stein, Manisha Balwani, D. Karl E. Anderson, Charles Parker, David J. Kuter, Susana Monroy, Jeeyoung Oh, Bruce Ritchie, John J. Ko, Zhaowei Hua, Marianne T. Sweetser, Eliane Sardh, for the ENVISION Investigators
Liver Int. 2022 Jan; 42(1): 161–172. Published online 2021 Nov 16. doi: 10.1111/liv.15090
PMCID:
PMC9299194
19.
Andrea Ricci, Gilda Sandri, Matteo Marcacci, Elena Di Pierro, Francesca Granata, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura
Diagnostics (Basel) 2022 Jun; 12(6): 1303. Published online 2022 May 24. doi: 10.3390/diagnostics12061303
PMCID:
PMC9221615
20.
Chaudry Nasir Majeed, Christopher D Ma, Ted Xiao, Sean Rudnick, Herbert L Bonkovsky
Drug Des Devel Ther. 2022; 16: 1827–1845. Published online 2022 Jun 16. doi: 10.2147/DDDT.S281631
PMCID:
PMC9208469

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