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Items: 1 to 20 of 194

1.
Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC) , Andrea L. Gropman, Jirair K. Bedoyan
Mol Genet Genomic Med. 2024 Apr; 12(4): e2443. Published online 2024 Apr 17. doi: 10.1002/mgg3.2443
PMCID:
PMC11024633
2.
Sabastain F Forsah, Derek Ugwendum, Divine Besong Arrey Agbor, Nkafu Bechem Ndemazie, Gauvain Kankeu Tonpouwo, Nancelle Ndema, Akua Aboah Taylor, Jay Nfonoyim
Cureus. 2024 Mar; 16(3): e55711. Published online 2024 Mar 7. doi: 10.7759/cureus.55711
PMCID:
PMC10998436
3.
Hyunho Seol, Yoon Hee Hong, Min Ji Jeon
AACE Clin Case Rep. 2024 Mar-Apr; 10(2): 71–74. Published online 2024 Jan 24. doi: 10.1016/j.aace.2024.01.005
PMCID:
PMC10958625
4.
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Orphanet J Rare Dis. 2024; 19: 3. Published online 2024 Jan 2. doi: 10.1186/s13023-023-02997-8
PMCID:
PMC10763478
5.
Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen
Mol Genet Metab Rep. 2023 Dec; 37: 101020. Published online 2023 Nov 5. doi: 10.1016/j.ymgmr.2023.101020
PMCID:
PMC10694733
6.
Adhuresa Ramosaj, Palak Singhal, André Schaller, Alexander Laemmle
Mol Genet Metab Rep. 2023 Dec; 37: 101007. Published online 2023 Sep 6. doi: 10.1016/j.ymgmr.2023.101007
PMCID:
PMC10694731
7.
Majitha Seyed Ibrahim, Jessica I. Gold, Alison Woodall, Berna Seker Yilmaz, Paul Gissen, Karolina M. Stepien
Children (Basel) 2023 Aug; 10(8): 1368. Published online 2023 Aug 9. doi: 10.3390/children10081368
PMCID:
PMC10453542
8.
Berna Seker Yilmaz, Paul Gissen
Biomedicines. 2023 Aug; 11(8): 2227. Published online 2023 Aug 8. doi: 10.3390/biomedicines11082227
PMCID:
PMC10452060
9.
Kazuto Yamazaki, Kenji Kubara, Satoko Ishii, Keita Kondo, Yuta Suzuki, Takayuki Miyazaki, Kaoru Mitsuhashi, Masashi Ito, Kappei Tsukahara
Mol Ther Nucleic Acids. 2023 Sep 12; 33: 210–226. Published online 2023 Jul 4. doi: 10.1016/j.omtn.2023.06.023
PMCID:
PMC10372164
10.
RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, David Valle
JIMD Rep. 2023 May; 64(3): 233–237. Published online 2023 Jan 29. doi: 10.1002/jmd2.12361
PMCID:
PMC10159862
11.
高 瑞伟, 巴 音, 张 蓉, 曹 云, 杨 琳, 吴 冰冰, 周 文浩, 周 建国
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Apr 15; 25(4): 431–435. Chinese. doi: 10.7499/j.issn.1008-8830.2302023
PMCID:
PMC10120332
12.
Ashley Andrews, Sarah Roberts, Lorenzo D. Botto
Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100891. Published online 2022 Jul 2. doi: 10.1016/j.ymgmr.2022.100891
PMCID:
PMC9817482
13.
Jessica Abbott, Mia Senzatimore, Paldeep Atwal
Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100916. Published online 2022 Sep 9. doi: 10.1016/j.ymgmr.2022.100916
PMCID:
PMC9817481
14.
Annette Feigenbaum, Leah Lamale-Smith, Lawrence Weinstein
Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100894. Published online 2022 Jul 12. doi: 10.1016/j.ymgmr.2022.100894
PMCID:
PMC9817480
15.
Joshua Baker, Lauren Hitchins, Erika Vucko, Kirsten Havens, Karen Becker, Katherine Arduini
Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100906. Published online 2022 Jul 30. doi: 10.1016/j.ymgmr.2022.100906
PMCID:
PMC9817479
16.
Annette Feigenbaum
Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100941. Published online 2022 Dec 15. doi: 10.1016/j.ymgmr.2022.100941
PMCID:
PMC9817477
17.
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Life (Basel) 2022 Nov; 12(11): 1721. Published online 2022 Oct 27. doi: 10.3390/life12111721
PMCID:
PMC9695856
18.
Yuya Tanaka, Mitsuru Matsuki, Rieko Furukawa, Waka Nakata, Yoshio Sakurai, Sayaka Ajihara, Akiko Kawano, Harushi Mori
BMJ Neurol Open. 2022; 4(2): e000354. Published online 2022 Nov 22. doi: 10.1136/bmjno-2022-000354
PMCID:
PMC9685229
19.
Satsuki Yamamoto, Shun Yamashita, Toshihiko Kakiuchi, Kazuya Kurogi, Tomoyo M. Nishi, Masaki Tago, Shu-ichi Yamashita
Am J Case Rep. 2022; 23: e937658-1–e937658-6. Published online 2022 Nov 15. doi: 10.12659/AJCR.937658
PMCID:
PMC9676062
20.
Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Ann Clin Transl Neurol. 2022 Nov; 9(11): 1715–1726. Published online 2022 Oct 10. doi: 10.1002/acn3.51668
PMCID:
PMC9639638

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