Andrea L Gropman

Andrea L Gropman

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Andrea L Gropman

Andrea L Gropman

Publications by authors named "Andrea L Gropman"

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Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome).

Am J Med Genet A 2019 Oct 2. Epub 2019 Oct 2.

Department of Neurology, George Washington University, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61360DOI Listing
October 2019

Early prediction of phenotypic severity in Citrullinemia Type 1.

Ann Clin Transl Neurol 2019 Sep 30;6(9):1858-1871. Epub 2019 Aug 30.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1002/acn3.50886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764635PMC
September 2019

The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.

Mol Genet Metab 2018 11 24;125(3):235-240. Epub 2018 Aug 24.

Center for Neuroscience, Children Neuroscience, Medical System, George Washington University, Washington, DC, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.08.011DOI Listing
November 2018

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

J Inherit Metab Dis 2016 07 23;39(4):573-84. Epub 2016 May 23.

Departments of Pediatrics and Neurology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1007/s10545-016-9942-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921309PMC
July 2016

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency.

PLoS One 2015 11;10(6):e0129595. Epub 2015 Jun 11.

Center for Functional and Molecular Imaging, Georgetown University, Washington, DC, United States of America; Department of Neurology, Georgetown University Medical Center, Washington, DC, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0129595PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466251PMC
May 2016

MR Imaging Findings in Xp21.2 Duplication Syndrome.

J Radiol Case Rep 2016 May 31;10(5):9-14. Epub 2016 May 31.

Department of Neurology, Children's National Medical Center, Washington, D.C., USA.

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http://dx.doi.org/10.3941/jrcr.v10i5.2563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065289PMC
May 2016

Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.

Mol Genet Metab 2014 Sep-Oct;113(1-2):136-41. Epub 2014 May 20.

Department of Neurogenetics, Children's National Medical Center, Washington D.C., USA; Center for Functional and Molecular Imaging, Georgetown University, Washington D.C., USA; George Washington University of Health Sciences, Washington D.C., USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458385PMC
June 2015

Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.

Mol Genet Metab 2014 Sep-Oct;113(1-2):118-26. Epub 2014 May 20.

Center for Functional and Molecular Imaging, Georgetown University, USA; Children's National Medical, USA; George Washington University, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177962PMC
June 2015

Structural brain defects.

Clin Perinatol 2015 Jun 4;42(2):337-61, ix. Epub 2015 Apr 4.

Department of Neurology, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.clp.2015.02.007DOI Listing
June 2015

Identification of infants at risk for autism spectrum disorder and developmental language delay prior to 12 months.

Autism 2015 Apr 18;19(3):327-37. Epub 2014 Feb 18.

George Washington University of the Health Sciences, USA Children's National Medical Center, USA.

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http://dx.doi.org/10.1177/1362361314521329DOI Listing
April 2015

Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation.

J Child Neurol 2014 Sep 17;29(9):1249-56. Epub 2014 Jul 17.

Children's National Medical Center, The George Washington University School of Medicine, Washington, DC, USA

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http://dx.doi.org/10.1177/0883073814538511DOI Listing
September 2014

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.

Neurology 2014 Jul 11;83(2):151-9. Epub 2014 Jun 11.

From the EEG Section, NINDS (J.M.S.), Medical Genetics Branch, National Human Genome Research Institute (S.E.S., A.L.G.), and Program on Developmental Endocrinology and Genetics, NICHD (C.A.W.), NIH, Bethesda; Departments of Child and Adolescent Psychiatry (D.C.L., E.T.) and Neurology and Developmental Medicine (W.H.T., J.B.E.), Kennedy Krieger Institute, Baltimore; Departments of Neurology (W.H.T., J.B.E.) and Psychiatry and Behavioral Sciences (E.T.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Pediatric Neurology (W.H.T., F.D.P.), Penn State Hershey Children's Hospital, Hershey, PA; Department of Biostatistics (B.S.C.), Johns Hopkins University School of Public Health, Baltimore, MD; Department of Neurology (A.L.G.), Children's National Medical Center; and George Washington University of the Health Sciences (A.L.G.), Washington, DC.

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http://dx.doi.org/10.1212/WNL.0000000000000565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117167PMC
July 2014

The urea cycle disorders.

Semin Neurol 2014 Jul 5;34(3):341-9. Epub 2014 Sep 5.

Department of Neurology, Children's National Medical Center, Washington, District of Columbia.

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http://dx.doi.org/10.1055/s-0034-1386771DOI Listing
July 2014

Expanding the phenotypic profile of boys with 47, XXY: the impact of familial learning disabilities.

Am J Med Genet A 2014 Jun 8;164A(6):1464-9. Epub 2014 Apr 8.

George Washington University of the Health Sciences, Washington, District of Columbia; Neurodevelopmental Diagnostic Center for Young Children, Davidsonville, Maryland; The Focus Foundation, Davidsonville, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.36483
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http://dx.doi.org/10.1002/ajmg.a.36483DOI Listing
June 2014

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Ann Neurol 2013 Aug;74(2):164-70

Departments of Neurology and Pediatrics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1002/ana.23950DOI Listing
August 2013

Urea cycle defects and hyperammonemia: effects on functional imaging.

Metab Brain Dis 2013 Jun 13;28(2):269-75. Epub 2012 Nov 13.

Department of Neurology, Children's National Medical Center, George Washington University of Health Sciences, 111 Michigan Avenue, NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1007/s11011-012-9348-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594356PMC
June 2013

Neuroimaging in mitochondrial disorders.

Authors:
Andrea L Gropman

Neurotherapeutics 2013 Apr;10(2):273-85

Department of Pediatrics and Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC 20010, USA.

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http://dx.doi.org/10.1007/s13311-012-0161-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625392PMC
April 2013

Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age.

Am J Med Genet A 2013 Mar 23;161A(3):501-8. Epub 2013 Jan 23.

George Washington University of the Health Sciences, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/ajmg.a.35769DOI Listing
March 2013

Developmental and psychiatric presentations of inherited metabolic disorders.

Pediatr Neurol 2013 Mar;48(3):179-87

Department of Neurology, Children's National Medical Center and George Washington University of the Health Sciences, Washington, DC 20010, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994120040
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http://dx.doi.org/10.1016/j.pediatrneurol.2012.08.012DOI Listing
March 2013

Introduction: past, present, and future care of individuals with XXY.

Am J Med Genet C Semin Med Genet 2013 Feb;163C(1):1-2

George Washington University School of Medicine and Health Sciences, USA.

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http://dx.doi.org/10.1002/ajmg.c.31355DOI Listing
February 2013

Is it all the X: familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

Am J Med Genet C Semin Med Genet 2013 Feb;163C(1):27-34

Neurodevelopmental Diagnostic Center for Young Children, Crofton, MD 21114, USA.

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http://dx.doi.org/10.1002/ajmg.c.31353DOI Listing
February 2013

Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY.

Am J Med Genet C Semin Med Genet 2013 Feb;163C(1):44-9

Children's National Medical Center, Washington D.C., USA.

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http://dx.doi.org/10.1002/ajmg.c.31354DOI Listing
February 2013

Cognitive and motor disabilities in children.

Authors:
Andrea L Gropman

Semin Pediatr Neurol 2012 Dec;19(4):159

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http://dx.doi.org/10.1016/j.spen.2012.09.001DOI Listing
December 2012

Patterns of brain injury in inborn errors of metabolism.

Authors:
Andrea L Gropman

Semin Pediatr Neurol 2012 Dec;19(4):203-10

Departments of Pediatrics and Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.spen.2012.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758694PMC
December 2012

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.

Pediatr Neurol 2012 Nov;47(5):355-61

Clinical Research Training Program, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133743PMC
November 2012

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Am J Hum Genet 2012 Feb 2;90(2):295-300. Epub 2012 Feb 2.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.11.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276655PMC
February 2012

New frontiers in neuroimaging applications to inborn errors of metabolism.

Mol Genet Metab 2011 Nov 30;104(3):195-205. Epub 2011 Jun 30.

Department of Neurology, Children's National Medical Center, Washington, D.C. 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758691PMC
November 2011

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome.

Acta Paediatr 2011 Jun 20;100(6):861-5. Epub 2011 Apr 20.

George Washington University of the Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1111/j.1651-2227.2011.02252.xDOI Listing
June 2011

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation: importance of DNA collection for post-mortem diagnosis.

Authors:
Andrea L Gropman

Dev Med Child Neurol 2011 Jun 19;53(6):487-8. Epub 2011 Apr 19.

Department of Neurology, Children's National Medical Center and the George Washington University of Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1111/j.1469-8749.2011.03920.xDOI Listing
June 2011

The use of neuroimaging in the diagnosis of mitochondrial disease.

Dev Disabil Res Rev 2010 ;16(2):129-35

Division of Radiology, Seattle Children's Hospital/University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1002/ddrr.103DOI Listing
January 2011

Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches.

J Dev Behav Pediatr 2010 Sep;31(7):582-91

Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.

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http://dx.doi.org/10.1097/DBP.0b013e3181ee384eDOI Listing
September 2010

Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome.

Am J Med Genet A 2010 Jun;152A(6):1523-30

Department of Neurology, Children's National Medical Center, Washington, District of Columbia 20010, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33307
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http://dx.doi.org/10.1002/ajmg.a.33307DOI Listing
June 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

Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults.

Radiology 2009 Sep 30;252(3):833-41. Epub 2009 Jun 30.

Department of Neurology, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1148/radiol.2523081878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734894PMC
September 2009

Clinical NOE 13C MRS for neuropsychiatric disorders of the frontal lobe.

J Magn Reson 2008 Dec 17;195(2):219-25. Epub 2008 Sep 17.

Huntington Medical Research Institutes, Clinical MRS Unit, 10 Pico Street, Pasadena, CA, USA.

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http://dx.doi.org/10.1016/j.jmr.2008.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610418PMC
December 2008

A 2-year-old male with developmental delay, irritability, and failure to thrive.

Pediatr Ann 2008 Jul;37(7):459-60, 463

Department of Neurology, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.3928/00904481-20080701-01DOI Listing
July 2008

1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.

Mol Genet Metab 2008 May 11;94(1):52-60. Epub 2008 Feb 11.

Department of Neurology, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486377PMC
May 2008

New developments in Smith-Magenis syndrome (del 17p11.2).

Curr Opin Neurol 2007 Apr;20(2):125-34

Department of Neurology, Children's National Medical Center, George Washington University of the Health Sciences, Washington, DC 20010, USA.

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http://pdfs.journals.lww.com/co-neurology/2007/04000/New_dev
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/WCO.0b013e3280895dbaDOI Listing
April 2007

Atypical patterns of inheritance.

Semin Pediatr Neurol 2007 Mar;14(1):34-45

Department of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.spen.2006.11.007DOI Listing
March 2007

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

Pediatr Neurol 2006 May;34(5):337-50

Department of Pediatrics (Genetics and Metabolism), Georgetown University, Washington, DC 20007, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940500494
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http://dx.doi.org/10.1016/j.pediatrneurol.2005.08.018DOI Listing
May 2006

Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy.

Authors:
Andrea L Gropman

Mol Genet Metab 2005 Sep-Oct;86(1-2):2-9

Department of Pediatrics (Genetics and Metabolism), Georgetown University, Washington, DC 20057, USA.

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January 2006

The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations.

Authors:
Andrea L Gropman

Mitochondrion 2004 Sep 7;4(5-6):503-20. Epub 2004 Oct 7.

Neurodevelopmental Research Clinic, Center for Functional and Molecular Imaging (CFMI), Washington, DC 20007, USA.

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http://dx.doi.org/10.1016/j.mito.2004.07.009DOI Listing
September 2004

Cognitive outcome in urea cycle disorders.

Mol Genet Metab 2004 Apr;81 Suppl 1:S58-62

Children's Research Institute, Children's National Medical Center, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20010-2916, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.11.016DOI Listing
April 2004

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Genet Med 2002 May-Jun;4(3):118-25

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg. 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892-1875, USA.

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http://dx.doi.org/10.109700125817-200205000-00004DOI Listing
August 2003