Publications by authors named "Stephen Cederbaum"

82Publications

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.

Mol Genet Metab Rep 2019 Dec 16;21:100517. Epub 2019 Sep 16.

Departments of Psychiatry, Pediatrics and Human Genetics, The Intellectual and Developmental Disabilities Research Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796764PMC
December 2019

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

Proc Natl Acad Sci U S A 2019 10 9;116(42):21150-21159. Epub 2019 Sep 9.

Department of Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095;

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http://dx.doi.org/10.1073/pnas.1906182116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800360PMC
October 2019

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.

Mol Genet Metab 2018 11 12;125(3):228-234. Epub 2018 Sep 12.

Boston Children's Hospital and Harvard Medical School, 1 Autumn St., Rm #526, Boston, MA 02115, United States.

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http://dx.doi.org/10.1016/j.ymgme.2018.09.006DOI Listing
November 2018

Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice.

Mol Genet Metab 2018 06 21;124(2):114-123. Epub 2018 Apr 21.

Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Department of Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Molecular Biology Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Department of Psychiatry, The David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Intellectual and Developmental Disabilities Research Center at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Department of Urology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Semel Institute for Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Broad Center for Regenerative Medicine and Stem Cell Research at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976549PMC
June 2018

Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

J Inherit Metab Dis 2018 07 8;41(4):657-667. Epub 2018 Feb 8.

Children's Hospital of Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1007/s10545-017-0132-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041144PMC
July 2018

Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency.

Pediatr Dev Pathol 2017 Nov-Dec;20(6):517-521. Epub 2017 Mar 7.

1 Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, California.

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http://dx.doi.org/10.1177/1093526617697058DOI Listing
May 2019

Newborn screening for hyperargininemia due to arginase 1 deficiency.

Mol Genet Metab 2017 08 20;121(4):308-313. Epub 2017 Jun 20.

Departments of Psychiatry, Pediatrics and Human Genetics, The Intellectual Development and Disabilities Research Center, University of California, Los Angeles, CA, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173031
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http://dx.doi.org/10.1016/j.ymgme.2017.06.003DOI Listing
August 2017

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

J Neurosci 2016 06;36(25):6680-90

Departments of Surgery, Psychiatry, Medicine, and Molecular and Medical Pharmacology, David Geffen School of Medicine, and Intellectual and Developmental Disabilities Research Center, University of California Los Angeles, Los Angeles, California 90095, Semel Institute for Neuroscience, Los Angeles, California 90095, and

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http://www.jneurosci.org/lookup/doi/10.1523/JNEUROSCI.0897-1
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http://dx.doi.org/10.1523/JNEUROSCI.0897-16.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4916246PMC
June 2016

Interpreting sequence variants in a clinical context.

Genet Med 2015 Dec 5;17(12):1012. Epub 2015 Nov 5.

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http://dx.doi.org/10.1038/gim.2015.150DOI Listing
December 2015

Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice.

Mol Ther 2014 Oct 3;22(10):1792-802. Epub 2014 Jun 3.

1] Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [2] Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [3] The Intellectual and Developmental Disabilities Research Center at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [4] The Semel Institute for Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [5] Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [6] Department of Urology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [7] Broad Center of Regenerative Medicine and Stem Cell Research, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/mt.2014.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428413PMC
October 2014

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

J Pediatr 2014 Apr 30;164(4):720-725.e6. Epub 2014 Jan 30.

University of Colorado School of Medicine, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, The Digestive Health Institute and Children's Hospital Colorado, Aurora CO.

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http://dx.doi.org/10.1016/j.jpeds.2013.12.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070427PMC
April 2014

l-Citrulline Protects from Kidney Damage in Type 1 Diabetic Mice.

Front Immunol 2013 24;4:480. Epub 2013 Dec 24.

Department of Pharmacology and Toxicology, Georgia Regents University , Augusta, GA , USA ; Department of Physiology, Georgia Regents University , Augusta, GA , USA.

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http://dx.doi.org/10.3389/fimmu.2013.00480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3871963PMC
January 2014

Arginase 1: an unexpected mediator of pulmonary capillary barrier dysfunction in models of acute lung injury.

Front Immunol 2013 7;4:228. Epub 2013 Aug 7.

Vascular Biology Center, Medical College of Georgia, Georgia Regents University , Augusta, GA , USA ; Department of Pharmacology and Toxicology, Medical College of Georgia, Georgia Regents University , Augusta, GA , USA ; Division of Pulmonary Medicine, Medical College of Georgia, Georgia Regents University , Augusta, GA , USA.

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http://dx.doi.org/10.3389/fimmu.2013.00228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736115PMC
August 2013

Newborn screening 50 years later: access issues faced by adults with PKU.

Genet Med 2013 Aug 7;15(8):591-9. Epub 2013 Mar 7.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.

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http://dx.doi.org/10.1038/gim.2013.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938172PMC
August 2013

Peanut consumption increases levels of plasma very long chain fatty acids in humans.

Mol Genet Metab 2012 Nov 20;107(3):620-2. Epub 2012 Jul 20.

Department of Pediatrics, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.015DOI Listing
November 2012

Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy.

Mol Ther 2012 Oct 3;20(10):1844-51. Epub 2012 Jul 3.

Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California 90095-7054, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15250016163218
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http://dx.doi.org/10.1038/mt.2012.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464644PMC
October 2012

Diabetes-induced vascular dysfunction involves arginase I.

Am J Physiol Heart Circ Physiol 2012 Jan 4;302(1):H159-66. Epub 2011 Nov 4.

Department of Pharmacology and Toxicology, Georgia Health Sciences University, Augusta, 30912, USA.

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http://dx.doi.org/10.1152/ajpheart.00774.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334242PMC
January 2012

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Mol Genet Metab 2011 Aug 22;103(4):338-40. Epub 2011 Apr 22.

Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.007DOI Listing
August 2011

Combined Hurler and Sanfilippo syndrome in a sibling pair.

Mol Genet Metab 2011 Jun 22;103(2):135-7. Epub 2011 Feb 22.

UCLA Intercampus Medical Genetics Training Program, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.011DOI Listing
June 2011

Tetrahydrobiopterin and PKU: into the future.

J Pediatr 2011 Mar 28;158(3):351-3. Epub 2010 Oct 28.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476100079
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http://dx.doi.org/10.1016/j.jpeds.2010.09.036DOI Listing
March 2011

Alternative pathway or diversion therapy for urea cycle disorders now and in the future.

Mol Genet Metab 2010 Jul 22;100(3):219-20. Epub 2010 Apr 22.

Department of Psychiatry, Pediatrics and Human Genetics, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.04.008DOI Listing
July 2010

"Overcoming barriers: new developments and future directions for urea cycle disorders.". Introduction.

Mol Genet Metab 2010 2;100 Suppl 1:S1-2. Epub 2010 Mar 2.

Departments of Psychiatry, Pediatrics and Human Genetics, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.023DOI Listing
July 2010

Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia.

Mol Genet Metab 2010 29;100 Suppl 1:S31-6. Epub 2010 Jan 29.

Department of Pathology, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.01.012DOI Listing
July 2010

Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

Pediatr Neurol 2010 Jan;42(1):49-52

Department of Neurology, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758690PMC
January 2010

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):342

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):341

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Disruption of arginase II alters prostate tumor formation in TRAMP mice.

Prostate 2008 Oct;68(14):1561-9

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California 90095-1732, USA.

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http://dx.doi.org/10.1002/pros.20816DOI Listing
October 2008

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Mol Genet Metab 2008 Aug 17;94(4):397-402. Epub 2008 Jun 17.

Children's National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N.W., Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640937PMC
August 2008

Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review.

Arch Neurol 2008 Mar;65(3):412-5

Alzheimer's Disease Research Center, Department of Neurology, University of California, Los Angeles, 10911 Weyburn Ave, Ste 200, Los Angeles, CA 90095-7226, USA.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneur.65.3.412DOI Listing
March 2008

Maternal glutaric acidemia, type I identified by newborn screening.

Mol Genet Metab 2008 May 4;94(1):132-4. Epub 2008 Mar 4.

Department of Pediatrics, University of California, Los Angeles, CA 90095-1752, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2474772PMC
May 2008

Expression of arginase II in prostate cancer.

Int J Oncol 2008 Feb;32(2):357-65

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, 650 Charles E. Young Drive South, Los Angeles, CA 90095-1732, USA.

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February 2008

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Mol Genet Metab 2008 Apr 21;93(4):363-70. Epub 2007 Dec 21.

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.11.002DOI Listing
April 2008

Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.

Mol Genet Metab 2008 Feb 7;93(2):172-8. Epub 2007 Nov 7.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.016DOI Listing
February 2008

Contrasting features of urea cycle disorders in human patients and knockout mouse models.

Mol Genet Metab 2008 Jan 22;93(1):7-14. Epub 2007 Oct 22.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, CA 90095-1732, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.08.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2692509PMC
January 2008

Polyamine homeostasis in arginase knockout mice.

Am J Physiol Cell Physiol 2007 Oct 8;293(4):C1296-301. Epub 2007 Aug 8.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1732, USA.

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http://dx.doi.org/10.1152/ajpcell.00393.2006DOI Listing
October 2007

Newborn screening: the spigot is open and threatens to become a flood.

J Pediatr 2007 Aug;151(2):108-10

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http://dx.doi.org/10.1016/j.jpeds.2007.04.035DOI Listing
August 2007

Expanded newborn screening identifies maternal primary carnitine deficiency.

Mol Genet Metab 2007 Apr 28;90(4):441-5. Epub 2006 Nov 28.

University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.10.003DOI Listing
April 2007

Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphic.

Am J Med Genet A 2006 Nov;140(21):2320-3

Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.31459
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http://dx.doi.org/10.1002/ajmg.a.31459DOI Listing
November 2006

Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Pediatr Res 2006 Oct 28;60(4):423-9. Epub 2006 Aug 28.

Department of Pediatrics, Division of Human Genetics, University of California, Irvine, CA 92697-3940, USA.

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http://dx.doi.org/10.1203/01.pdr.0000238301.25938.f5DOI Listing
October 2006

Loss of arginase I results in increased proliferation of neural stem cells.

J Neurosci Res 2006 Sep;84(4):735-46

Edward Hines Jr. Veterans Administration Hospital, Hines, Illinois, USA.

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http://dx.doi.org/10.1002/jnr.20964DOI Listing
September 2006

Ornithine deficiency in the arginase double knockout mouse.

Mol Genet Metab 2006 Sep-Oct;89(1-2):87-96. Epub 2006 Jun 5.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.04.007DOI Listing
October 2006

New frontiers in hereditary metabolic disease: an historical perspective.

Mol Genet Metab 2006 Mar 5;87(3):184-9. Epub 2006 Jan 5.

Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.11.006DOI Listing
March 2006

Pitfalls in newborn screening.

J Pediatr 2005 Jul;147(1):119-20

Mattel Children's Hospital, California, USA.

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http://dx.doi.org/10.1016/j.jpeds.2005.03.041DOI Listing
July 2005

Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy.

Mol Genet Metab 2005 Aug;85(4):286-90

Regional Metabolic Center, Kaiser Permanente Medical Group, 4700 Sunset Boulevard, Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.04.004DOI Listing
August 2005

Hyperargininemia due to liver arginase deficiency.

Mol Genet Metab 2005 Mar 19;84(3):243-51. Epub 2004 Dec 19.

Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.11.004DOI Listing
March 2005

Arginases I and II: do their functions overlap?

Mol Genet Metab 2004 Apr;81 Suppl 1:S38-44

Department of Psychiatry, David Geffen School of Medicine at the University of California, Los Angeles, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.10.012DOI Listing
April 2004

Widespread expression of arginase I in mouse tissues. Biochemical and physiological implications.

J Histochem Cytochem 2003 Sep;51(9):1151-60

Mental Retardation Research Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90095-1732, USA.

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http://dx.doi.org/10.1177/002215540305100905DOI Listing
September 2003

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

J Pediatr 2003 Mar;142(3):349-52

Divisions of Genetics and Neuropathology, Children's Hospital Boston, the Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA.

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http://dx.doi.org/10.1067/mpd.2003.97DOI Listing
March 2003

Phenylketonuria: an update.

Curr Opin Pediatr 2002 Dec;14(6):702-6

Departments of Psychiatry, Pediatrics and Human Genetics, and the Mental Retardation Research Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90024-1759, USA.

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http://dx.doi.org/10.1097/00008480-200212000-00010DOI Listing
December 2002

Expression of the liver form of arginase in erythrocytes.

Mol Genet Metab 2002 Jun;76(2):100-10

Department of Pathology and Laboratory Medicine, University of California at Los Angeles School of Medicine, 10833 Le Conte Avenue, 90095-1732, USA.

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http://dx.doi.org/10.1016/s1096-7192(02)00034-3DOI Listing
June 2002

Biotin dependency due to a defect in biotin transport.

J Clin Invest 2002 Jun;109(12):1617-23

Regional Metabolic Service, Kaiser Permanente, Los Angeles, California, USA.

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http://dx.doi.org/10.1172/JCI13138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC151007PMC
June 2002

Mouse model for human arginase deficiency.

Mol Cell Biol 2002 Jul;22(13):4491-8

Department of Pathology and Laboratory Medicine and the Mental Retardation Research Center, University of California Los Angeles School of Medicine, Los Angeles, California 90095-1732, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC133904PMC
http://dx.doi.org/10.1128/mcb.22.13.4491-4498.2002DOI Listing
July 2002

Arginase expression in mouse embryonic development.

Mech Dev 2002 Jul;115(1-2):151-5

Mental Retardation Research Center, UCLA, 760 Westwood Plaza, Los Angeles, CA 90024-1759, USA.

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http://dx.doi.org/10.1016/s0925-4773(02)00089-8DOI Listing
July 2002

Helicobacter pylori induces macrophage apoptosis by activation of arginase II.

J Immunol 2002 May;168(9):4692-700

Department of Medicine, Division of Gastroenterology, University of Maryland School of Medicine, and Veterans Affairs Maryland Health Care System, Baltimore, MD 21201, USA.

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http://dx.doi.org/10.4049/jimmunol.168.9.4692DOI Listing
May 2002

Cloning and characterization of human agmatinase.

Mol Genet Metab 2002 Mar;75(3):209-18

Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.

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http://dx.doi.org/10.1006/mgme.2001.3277DOI Listing
March 2002