PMC Links for Books (Select 1497202) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 68003602.

Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

Brian Truong, Gabriella Allegri, Xiao-Bo Liu, Kristine E. Burke, Xuling Zhu, Stephen D. Cederbaum, Johannes Häberle, Paolo G. V. Martini, Gerald S. Lipshutz

Proc Natl Acad Sci U S A. 2019 Oct 15; 116(42): 21150–21159. Published online 2019 Sep 9. doi: 10.1073/pnas.1906182116

PMCID:: PMC6800360

Abstract Article PDF–1.5M

Select item 66011193.

Hyperargininemia Experiences over Last 7 Years from a Tertiary Care Center

Sadanandavalli Retnaswami Chandra, Rita Christopher, Chakravarthula Nitin Ramanujam, Ganaraja Valakunja Harikrishna

J Pediatr Neurosci. 2019 Jan-Mar; 14(1): 2–6. doi: 10.4103/jpn.JPN_1_19

PMCID:: PMC6601119

Abstract Article

Select item 64988664.

Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature

Bernice Ho, Jennifer MacKenzie, Jagdeep Walia, Michael Geraghty, Graeme Smith, Julie Nedvidek, Andrea Guerin

JIMD Rep. 2019 Mar; 46(1): 28–34. Published online 2019 Mar 14. doi: 10.1002/jmd2.12025

PMCID:: PMC6498866

Abstract Article PDF–784K

Select item 61617385.

Arginase I mRNA therapy – a novel approach to rescue arginase 1 enzyme deficiency

Kirtika H. Asrani, Lei Cheng, Christopher J. Cheng, Romesh R. Subramanian

RNA Biol. 2018; 15(7): 914–922. Published online 2018 Jul 24. doi: 10.1080/15476286.2018.1475178

PMCID:: PMC6161738

Abstract Article PDF–1.3M

Select item 54514546.

Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency

Yuan Yan Sin, Phillipe R. Price, Laurel L. Ballantyne, Colin D. Funk

Sci Rep. 2017; 7: 2585. Published online 2017 May 31. doi: 10.1038/s41598-017-02927-2

PMCID:: PMC5451454

Abstract Article PDF–4.2M

Select item 51553307.

Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells

Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephanie AK Angarita, Jonathan K Tang, Katherine M Chang, Austin E Wininger, Alex K Lam, Benjamen E Schoenberg, Stephen D Cederbaum, April D Pyle, James A Byrne, Gerald S Lipshutz

Mol Ther Nucleic Acids. 2016 Nov; 5(11): e394. Published online 2016 Nov 29. doi: 10.1038/mtna.2016.98

PMCID:: PMC5155330

Abstract Article PDF–2.4M

Select item 49213098.

Improving Long Term Outcomes in Urea Cycle Disorders-Report from the Urea Cycle Disorders Consortium

Susan Waisbren, Andrea Gropman, Members of the UCDC, Mark L. Batshaw

J Inherit Metab Dis. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: J Inherit Metab Dis. 2016 Jul; 39(4): 573–584. Published online 2016 May 23. doi: 10.1007/s10545-016-9942-0

PMCID:: PMC4921309

Abstract Article PDF–1.1M

Select item 49162469.

Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy

Gloria Cantero, Xiao-Bo Liu, Ronald F. Mervis, Maria T. Lazaro, Stephen D. Cederbaum, Peyman Golshani, Gerald S. Lipshutz

J Neurosci. 2016 Jun 22; 36(25): 6680–6690. doi: 10.1523/JNEUROSCI.0897-16.2016

PMCID:: PMC4916246

Abstract Article PDF–3.1M

Select item 454475310.

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 405275611.

Clinical, Biochemical, and Molecular Spectrum of Hyperargininemia Due to Arginase I Deficiency

Fernando Scaglia, Brendan Lee

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2014 Jun 11.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2006 May 15; 0(2): 113–120. doi: 10.1002/ajmg.c.30091

PMCID:: PMC4052756

Abstract Article PDF–284K

Select item 360441812.

Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications

Stephanie Lamb, Christina Yi Ling Aye, Elaine Murphy, Lucy Mackillop

BMJ Case Rep. 2013; 2013: bcr2012007416. Published online 2013 Jan 2. doi: 10.1136/bcr-2012-007416

PMCID:: PMC3604418

Abstract Article PDF–205K

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