PMC Links for Books (Select 2408534) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 60808332.

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension

Jordan Kho, Xiaoyu Tian, Wing-Tak Wong, Terry Bertin, Ming-Ming Jiang, Shan Chen, Zixue Jin, Oleg A. Shchelochkov, Lindsay C. Burrage, Anilkumar K. Reddy, Hong Jiang, Reem Abo-Zahrah, Shuangtao Ma, Ping Zhang, Karl-Dimiter Bissig, Jean J. Kim, Sridevi Devaraj, George G. Rodney, Ayelet Erez, Nathan S. Bryan, Sandesh C.S. Nagamani, Brendan H. Lee

Am J Hum Genet. 2018 Aug 2; 103(2): 276–287. Published online 2018 Aug 2. doi: 10.1016/j.ajhg.2018.07.008

PMCID:: PMC6080833

Abstract Article PDF–1.9M

Select item 53932883.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Julien Baruteau, Elisabeth Jameson, Andrew A. Morris, Anupam Chakrapani, Saikat Santra, Suresh Vijay, Huriye Kocadag, Clare E. Beesley, Stephanie Grunewald, Elaine Murphy, Maureen Cleary, Helen Mundy, Lara Abulhoul, Alexander Broomfield, Robin Lachmann, Yusof Rahman, Peter H. Robinson, Lesley MacPherson, Katharine Foster, W. Kling Chong, Deborah A. Ridout, Kirsten McKay Bounford, Simon N. Waddington, Philippa B. Mills, Paul Gissen, James E. Davison

J Inherit Metab Dis. 2017; 40(3): 357–368. Published online 2017 Mar 1. doi: 10.1007/s10545-017-0022-x

PMCID:: PMC5393288

Abstract Article PDF–630K

Select item 45447534.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 34834465.

A Randomized Controlled Trial to Evaluate the Effects of High-Dose versus Low-Dose of Arginine Therapy on Hepatic Function Tests in Argininosuccinic Aciduria

Sandesh CS Nagamani, Oleg A Shchelochkov, Mary A Mullins, Susan Carter, Brendan C. Lanpher, Qin Sun, Soledad Kleppe, Ayelet Erez, E O’Brian Smith, Juan Marini, Members of the Urea Cycle Disorders Consortium, Brendan Lee

Mol Genet Metab. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Mol Genet Metab. 2012 Nov; 107(3): 315–321. Published online 2012 Sep 17. doi: 10.1016/j.ymgme.2012.09.016

PMCID:: PMC3483446

Abstract Article PDF–1.5M

Select item 34446826.

Optimizing Therapy for Argininosuccinic Aciduria

Sandesh CS Nagamani, Brendan Lee, Ayelet Erez

Mol Genet Metab. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Mol Genet Metab. 2012 Sep; 107(1-2): 10–14. Published online 2012 Jul 20. doi: 10.1016/j.ymgme.2012.07.009

PMCID:: PMC3444682

Abstract Article PDF–776K

Select item 33764917.

Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

Sandesh C.S. Nagamani, Philippe M. Campeau, Oleg A. Shchelochkov, Muralidhar H. Premkumar, Kilian Guse, Nicola Brunetti-Pierri, Yuqing Chen, Qin Sun, Yaoping Tang, Donna Palmer, Anilkumar K. Reddy, Li Li, Timothy C. Slesnick, Daniel I. Feig, Susan Caudle, David Harrison, Leonardo Salviati, Juan C. Marini, Nathan S. Bryan, Ayelet Erez, Brendan Lee

Am J Hum Genet. 2012 May 4; 90(5): 836–846. doi: 10.1016/j.ajhg.2012.03.018

PMCID:: PMC3376491

Abstract Article PDF–588K

Select item 27814388.

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

Eva Trevisson, Alberto Burlina, Mara Doimo, Vanessa Pertegato, Alberto Casarin, Luca Cesaro, Placido Navas, Giuseppe Basso, Geppo Sartori, Leonardo Salviati

J Biol Chem. 2009 Oct 16; 284(42): 28926–28934. Published online 2009 Aug 24. doi: 10.1074/jbc.M109.050195

PMCID:: PMC2781438

Abstract Article PDF–1.9M

Select item 27732149.

ARGININOSUCCINATE LYASE DEFICIENCY: LONGTERM OUTCOME OF 13 PATIENTS DETECTED BY NEWBORN SCREENING

C Ficicioglu, R Mandell, VE Shih

Mol Genet Metab. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Mol Genet Metab. 2009 Nov; 98(3): 273–277. Published online 2009 Jun 25. doi: 10.1016/j.ymgme.2009.06.011

PMCID:: PMC2773214

Abstract Article PDF–56K

Select item 264093710.

Cross-Sectional Multi-Center Study of Patients with Urea Cycle Disorders in the United States

Mendel Tuchman, Brendan Lee, Uta Lichter-Konecki, Marshall L. Summar, Marc Yudkoff, Stephen D. Cederbaum, Douglas S. Kerr, George A. Diaz, Margaretta R. Seashore, Hye-Seung Lee, Robert J. McCarter, Jeffrey P. Krischer, Mark L. Batshaw, Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network

Mol Genet Metab. Author manuscript; available in PMC 2009 Aug 1.

Published in final edited form as: Mol Genet Metab. 2008 Aug; 94(4): 397–402. Published online 2008 Jun 17. doi: 10.1016/j.ymgme.2008.05.004

PMCID:: PMC2640937

Abstract Article PDF–555K

Select item 121983611.

Arginine metabolism: nitric oxide and beyond.

G Wu, S M Morris, Jr

Biochem J. 1998 Nov 15; 336(Pt 1): 1–17. doi: 10.1042/bj3360001

PMCID:: PMC1219836

Summary PDF–494K

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