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Items: 1 to 20 of 524

1.
Ying Xue, Yun Zhou, Keqin Zhang, Ling Li, Abudurexiti Kayoumu, Liye Chen, Yuhui Wang, Zhiqiang Lu
Lipids Health Dis. 2017; 16: 185. Published online 2017 Sep 26. doi: 10.1186/s12944-017-0576-5
PMCID:
PMC5615764
2.
Lynne A. Wolfe, Miao He, Jerry Vockley, Nicole Payne, William Rhead, Charles Hoppel, Elaine Spector, Kim Gernert, K. Michael Gibson
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2010 Dec; 33(0 3): S481–S487. Published online 2010 Nov 19. doi: 10.1007/s10545-010-9246-8
PMCID:
PMC3970109
3.
I. Sahai, C. L. Garganta, J. Bailey, P. James, H. L. Levy, M. Martin, E. Neilan, C. Phornphutkul, D. A. Sweetser, T. H. Zytkovicz, R. B. Eaton
JIMD Rep. 2014; 13: 1–14. Published online 2013 Nov 5. doi: 10.1007/8904_2013_262
PMCID:
PMC4110341
4.
Shoichi Wakitani, Shidow Torisu, Taiki Yoshino, Kazuhisa Hattanda, Osamu Yamato, Ryuji Tasaki, Haruo Fujita, Koichiro Nishino
JIMD Rep. 2014; 13: 43–51. Published online 2013 Oct 20. doi: 10.1007/8904_2013_268
PMCID:
PMC4110340
5.
Yosuke Sudo, Ayako Sasaki, Takashi Wakabayashi, Chikahiko Numakura, Kiyoshi Hayasaka
Hum Genome Var. 2015; 1: 15016. Published online 2015 Jun 18. doi: 10.1038/hgv.2015.16
PMCID:
PMC4785565
6.
W-C. Liang, I. Nishino
Acta Myol. 2010 Oct; 29(2): 351–356.
PMCID:
PMC3040591
7.
Peter Augustin, Marina Toplak, Katharina Fuchs, Eva Christine Gerstmann, Ruth Prassl, Andreas Winkler, Peter Macheroux
J Biol Chem. 2018 Feb 23; 293(8): 2829–2840. Published online 2018 Jan 4. doi: 10.1074/jbc.RA117.000846
PMCID:
PMC5827430
8.
Yuanquan Song, Mary A. Selak, Corey T. Watson, Christopher Coutts, Paul C. Scherer, Jessica A. Panzer, Sarah Gibbs, Marion O. Scott, Gregory Willer, Ronald G. Gregg, Declan W. Ali, Michael J. Bennett, Rita J. Balice-Gordon
PLoS One. 2009; 4(12): e8329. Published online 2009 Dec 17. doi: 10.1371/journal.pone.0008329
PMCID:
PMC2791221
9.
Ebru Ortac Ersoy, Dorina Rama, Özlem Ünal, Serap Sivri, Arzu Topeli
Respir Med Case Rep. 2015; 15: 92–94. Published online 2015 May 11. doi: 10.1016/j.rmcr.2015.02.009
PMCID:
PMC4501457
10.
Sarah C Grünert
Orphanet J Rare Dis. 2014; 9: 117. Published online 2014 Jul 22. doi: 10.1186/s13023-014-0117-5
PMCID:
PMC4222585
13.
B Dubiel, C Dabrowski, R Wetts, K Tanaka
J Clin Invest. 1983 Nov; 72(5): 1543–1552. doi: 10.1172/JCI111113
PMCID:
PMC370442
14.
Seok-Hyung Kim, Sarah A. Scott, Michael J. Bennett, Robert P. Carson, Joshua Fessel, H. Alex Brown, Kevin C. Ess
PLoS Genet. 2013 Jun; 9(6): e1003563. Published online 2013 Jun 13. doi: 10.1371/journal.pgen.1003563
PMCID:
PMC3681725
15.
Daniele Grioni, Andrea Landi, Serena Gasperini, Andrea Trezza, Leonardo Fiori, Miriam Rigoldi, Rossella Parini, Erik Pietro Sganzerla
Child Neurol Open. 2015 Oct-Dec; 2(4): 2329048X15612432. Published online 2015 Oct 25. doi: 10.1177/2329048X15612432
PMCID:
PMC5417020
16.
Paulina Pokora, Aleksandra Jezela-Stanek, Agnieszka Różdżyńska-Świątkowska, Elżbieta Jurkiewicz, Anna Bogdańska, Edyta Szymańska, Dariusz Rokicki, Elżbieta Ciara, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Anna Tylki-Szymańska
Metab Brain Dis. 2019; 34(2): 641–649. Published online 2018 Dec 20. doi: 10.1007/s11011-018-0357-5
PMCID:
PMC6428789
17.
Stefan Kölker, Ernst Christensen, James V. Leonard, Cheryl R. Greenberg, Avihu Boneh, Alberto B. Burlina, Alessandro P. Burlina, Marjorie Dixon, Marinus Duran, Angels García Cazorla, Stephen I. Goodman, David M. Koeller, Mårten Kyllerman, Chris Mühlhausen, Edith Müller, Jürgen G. Okun, Bridget Wilcken, Georg F. Hoffmann, Peter Burgard
J Inherit Metab Dis. 2011 Jun; 34(3): 677–694. Published online 2011 Mar 23. doi: 10.1007/s10545-011-9289-5
PMCID:
PMC3109243
18.
Tze-Kiong Er, Chih-Chieh Chen, Yen-Yi Liu, Hui-Chiu Chang, Yin-Hsiu Chien, Jan-Gowth Chang, Jenn-Kang Hwang, Yuh-Jyh Jong
BMC Struct Biol. 2011; 11: 43. Published online 2011 Oct 21. doi: 10.1186/1472-6807-11-43
PMCID:
PMC3209457
19.
Martijn Kranendijk, Eduard A. Struys, Gajja S. Salomons, Marjo S. Van der Knaap, Cornelis Jakobs
J Inherit Metab Dis. 2012 Jul; 35(4): 571–587. Published online 2012 Mar 6. doi: 10.1007/s10545-012-9462-5
PMCID:
PMC3388262
20.
Verena Peters, Marina Morath, Matthias Mack, Michael Liesert, Wolfgang Buckel, Georg F. Hoffmann, Jerry Vockley, Sandro Ghisla, Johannes Zschocke
JIMD Rep. 2019 May; 47(1): 30–34. Published online 2019 Mar 26. doi: 10.1002/jmd2.12026
PMCID:
PMC6498835

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