PMC Links for Nucleotide (Select 1653961167) - PMC

Select item 41581811.

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Rutger Meinsma, Nico G. G. M. Abeling, Jeroen Roelofsen, Lida Zoetekouw, Yoriko Watanabe, Kyoko Tashiro, Tomoko Lee, Yasuhiro Takeshima, Hiroshi Mitsubuchi, Akira Yoneyama, Kazuhide Ohta, Kaoru Eto, Kayoko Saito, Tomiko Kuhara, André B. P. van Kuilenburg

J Inherit Metab Dis. 2014; 37(5): 801–812. Published online 2014 Feb 14. doi: 10.1007/s10545-014-9682-y

Correction in:: J Inherit Metab Dis. 2014; 37: 1023.

PMCID:: PMC4158181

Abstract Article PDF–2.8M

Select item 5456042.

A genome annotation-driven approach to cloning the human ORFeome

John E Collins, Charmain L Wright, Carol A Edwards, Matthew P Davis, James A Grinham, Charlotte G Cole, Melanie E Goward, Begoña Aguado, Meera Mallya, Younes Mokrab, Elizabeth J Huckle, David M Beare, Ian Dunham

Genome Biol. 2004; 5(10): R84. Published online 2004 Sep 30. doi: 10.1186/gb-2004-5-10-r84

PMCID:: PMC545604

Abstract Article PDF–762K

Select item 63972953.

Differential metabolic activity and discovery of therapeutic targets using summarized metabolic pathway models

Cankut Çubuk, Marta R. Hidalgo, Alicia Amadoz, Kinza Rian, Francisco Salavert, Miguel A. Pujana, Francesca Mateo, Carmen Herranz, Jose Carbonell-Caballero, Joaquín Dopazo

NPJ Syst Biol Appl. 2019; 5: 7. Published online 2019 Mar 1. doi: 10.1038/s41540-019-0087-2

PMCID:: PMC6397295

Abstract Article PDF–1.4M

Select item 45012304.

A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly

Jun Hwa Lee, André B. P. van Kuilenburg, N. G. G. M. Abeling, Valeria Vasta, Si Houn Hahn

JIMD Rep. 2015; 19: 117–121. Published online 2015 Feb 1. doi: 10.1007/8904_2014_379

PMCID:: PMC4501230

Abstract Article PDF–245K

Select item 34485515.

Gene expression profiling in peripheral blood mononuclear cells from patients with sporadic amyotrophic lateral sclerosis (sALS)

Rongzhen Zhang, Kenneth G. Hadlock, Hien Do, Stephanie Yu, Ronald Honrada, Stacey Champion, Dallas Forshew, Catherine Madison, Jonathan Katz, Robert G. Miller, Michael S. McGrath

J Neuroimmunol. Author manuscript; available in PMC 2012 Sep 21.

Published in final edited form as: J Neuroimmunol. 2011 Jan; 230(1-2): 114–123. Published online 2010 Sep 29. doi: 10.1016/j.jneuroim.2010.08.012

PMCID:: PMC3448551

Abstract Article PDF–1.0M

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