Publications by authors named "Gabor E Linthorst"

61Publications

[Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations].

Ned Tijdschr Geneeskd 2019 05 16;163. Epub 2019 May 16.

Amsterdam UMC, locatie AMC, afd. Inwendige Geneeskunde, onderafd. Endocrinologie en Metabolisme, Amsterdam.

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May 2019

[Respectful ethnic profiling in the care sector].

Ned Tijdschr Geneeskd 2019 03 1;163. Epub 2019 Mar 1.

Amsterdam UMC, afd. Inwendige geneeskunde, Endocrinologie en Metabolisme, locatie UvA-AMC.

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March 2019

[Studying abroad; the other side of the coin].

Ned Tijdschr Geneeskd 2018 08 30;162. Epub 2018 Aug 30.

Amsterdam UMC, locatie AMC-UvA, afd. Inwendige Geneeskunde.

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August 2018

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Kidney Int 2017 02 18;91(2):284-293. Epub 2016 Dec 18.

Department of Medicine, Division of Nephrology, University Hospital of Würzburg, Würzburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2016.10.004DOI Listing
February 2017

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.

Nat Rev Endocrinol 2016 10 17;12(10):606-15. Epub 2016 Jun 17.

Department of Pediatrics, Academisch Medisch Centrum, University of Amsterdam Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/nrendo.2016.90DOI Listing
October 2016

Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.

Mol Genet Metab 2016 Feb 1;117(2):194-8. Epub 2015 Dec 1.

Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam 1100 DD, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.11.014DOI Listing
February 2016

[The 'interesting case' and patient privacy: handling patient data in medical education].

Ned Tijdschr Geneeskd 2015 ;159:A9458

Academisch Medisch Centrum-Universiteit van Amsterdam, Amsterdam.

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April 2016

The role of antibodies in enzyme treatments and therapeutic strategies.

Best Pract Res Clin Endocrinol Metab 2015 Mar 24;29(2):183-94. Epub 2015 Jan 24.

Department of Endocrinology and Metabolism, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2015.01.006DOI Listing
March 2015

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

J Med Genet 2015 Apr 16;52(4):262-8. Epub 2015 Jan 16.

Laboratory of Genetic Metabolic Diseases, Amsterdam lysosome center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102872DOI Listing
April 2015

Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.

J Inherit Metab Dis 2015 Mar 14;38(2):351-8. Epub 2014 Nov 14.

Sphinx-Amsterdam Lysosome Center, Department of Endocrinology and metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9783-7DOI Listing
March 2015

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

JIMD Rep 2014 16;17:83-90. Epub 2014 Sep 16.

Department of Internal Medicine, Division Endocrinology and Metabolism, Amsterdam lysosome centre 'Sphinx', Academic Medical Center, University of Amsterdam, Room F5-166, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2014_342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241201PMC
November 2014

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.

Mol Genet Metab 2015 Feb 20;114(2):242-7. Epub 2014 Aug 20.

Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam Lysosome Center 'Sphinx', Amsterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.08.007DOI Listing
February 2015

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

Orphanet J Rare Dis 2014 Sep 2;9:133. Epub 2014 Sep 2.

Department of Paediatric Neurology, Emma Children's Hospital/Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1186/s13023-014-0133-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164755PMC
September 2014

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages.

J Inherit Metab Dis 2014 May 4;37(3):341-52. Epub 2014 Feb 4.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9677-8DOI Listing
May 2014

[Complaint to the disciplinary board about a resident].

Ned Tijdschr Geneeskd 2014 ;158(3):A6464

AMC, afd. Interne Geneeskunde, Amsterdam.

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September 2014

Fabry disease: a rare cause of neuropathic pain.

Curr Pain Headache Rep 2013 Oct;17(10):365

Department of Internal Medicine, div Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s11916-013-0365-4DOI Listing
October 2013

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.

Mol Genet Metab 2013 Jun 21;109(2):201-7. Epub 2013 Mar 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.03.008DOI Listing
June 2013

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.

Orphanet J Rare Dis 2013 Mar 25;8:47. Epub 2013 Mar 25.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, DD, 1100, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626869PMC
March 2013

Cost-effectiveness of enzyme replacement therapy for Fabry disease.

Orphanet J Rare Dis 2013 Feb 19;8:29. Epub 2013 Feb 19.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, Amsterdam, DD 1100, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598841PMC
February 2013

Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.

Hypertension 2012 Oct 6;60(4):998-1005. Epub 2012 Aug 6.

Department of Internal Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.112.195685DOI Listing
October 2012

[Using rare disease as a research model].

Ned Tijdschr Geneeskd 2012 ;156(17):A4223

Academisch Medisch Centrum, afd. Endocrinologie en metabolisme, Amsterdam, the Netherlands.

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June 2012

Prevalence of symptoms in female Fabry disease patients: a case-control survey.

J Inherit Metab Dis 2012 Sep 20;35(5):891-8. Epub 2012 Mar 20.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9447-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432199PMC
September 2012

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients.

Orphanet J Rare Dis 2011 Oct 31;6:69. Epub 2011 Oct 31.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-6-69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219561PMC
October 2011

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life.

Mol Genet Metab 2011 Nov 13;104(3):308-13. Epub 2011 Jul 13.

Department of Pediatrics, Academic Medical Center and Amsterdam Lysosome Center, Sphinx, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.07.006DOI Listing
November 2011

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

J Inherit Metab Dis 2011 Jun 29;34(3):605-19. Epub 2011 Mar 29.

Sphinx-Amsterdam Lysosome Center, Departments of Medical Biochemistry and Internal Medicine, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9308-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109260PMC
June 2011

Poikilothermia in a 38-year-old Fabry patient.

Clin Auton Res 2011 Jun 15;21(3):177-9. Epub 2010 Dec 15.

Department of Neurology, Academic Medical Centre, PO Box 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10286-010-0101-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3093548PMC
June 2011

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

Mol Genet Metab 2011 Jan 30;102(1):99-102. Epub 2010 Nov 30.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2010.11.155DOI Listing
January 2011

[Recurrent rhabdomyolysis: screening for underlying disease].

Ned Tijdschr Geneeskd 2010 ;154:A2290

Medisch Centrum Alkmaar, Alkmaar, afd. Neurologie, The Netherlands.

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December 2010

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases.

Arch Dis Child 2010 Aug 23;95(8):642-4. Epub 2010 Apr 23.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center (F5-166), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/adc.2009.171827DOI Listing
August 2010

Uremic thrombocytopathy is not about urea.

J Am Soc Nephrol 2010 May 1;21(5):753-5. Epub 2010 Apr 1.

Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, Netherlands.

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http://jasn.asnjournals.org/content/early/2010/04/01/ASN.200
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http://www.jasn.org/cgi/doi/10.1681/ASN.2009111181
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http://dx.doi.org/10.1681/ASN.2009111181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865735PMC
May 2010

Green urine, but no infection.

Lancet 2009 Oct;374(9700):1566

Department of Internal Medicine, Academic Medical Center, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/S0140-6736(09)61295-2DOI Listing
October 2009

[The discussion of medical errors with the patient].

Ned Tijdschr Geneeskd 2009 Feb;153(8):361-3

Academisch Medisch Centrum/Universiteit van Amsterdam, afd. Inwendige Geneeskunde, Amsterdam.

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February 2009

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.

Nephrol Dial Transplant 2009 Jul 13;24(7):2102-11. Epub 2009 Feb 13.

Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD, USA.

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https://academic.oup.com/ndt/article-lookup/doi/10.1093/ndt/
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http://dx.doi.org/10.1093/ndt/gfp031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698092PMC
July 2009

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Proc Natl Acad Sci U S A 2008 Feb 19;105(8):2812-7. Epub 2008 Feb 19.

Amsterdam Lysosome Center, Departments of Medical Biochemistry, Internal Medicine, and Paediatrics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1073/pnas.0712309105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268542PMC
February 2008

Global warming could affect outpatient attendance.

Lancet 2008 Feb;371(9611):474

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http://dx.doi.org/10.1016/S0140-6736(08)60234-2DOI Listing
February 2008

The majority of bold statements expressed during grand rounds lack scientific merit.

Med Educ 2007 Oct;41(10):965-7

Department of Internal Medicine, OLVG, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1111/j.1365-2923.2007.02838.x
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http://dx.doi.org/10.1111/j.1365-2923.2007.02838.xDOI Listing
October 2007

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg.

PLoS One 2007 Jul 11;2(7):e598. Epub 2007 Jul 11.

Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Amsterdam, Netherlands; Department of Medical Biochenmistry, Academic Medical Center/University of Amsterdam, Amsterdam, Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0000598PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1913555PMC
July 2007

Novel therapeutic targets for the treatment of Fabry disease.

Expert Opin Ther Targets 2007 Jun;11(6):821-33

Academic Medical Center, Department of Internal Medicine, Division of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1517/14728222.11.6.821DOI Listing
June 2007

Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands.

Nephrol Dial Transplant 2006 Feb 25;21(2):355-60. Epub 2005 Oct 25.

Internal Medicine/Clinical Haematology, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfi221DOI Listing
February 2006

Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers.

Clin Chim Acta 2005 Mar;353(1-2):201-3

Department of Internal Medicine / Clinical Haematology, Academic Medical Center F4-224 Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.cccn.2004.10.019DOI Listing
March 2005

Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta.

Kidney Int 2004 Oct;66(4):1589-95

Department of Internal Medicine/Clinical Hematology, Academic Medical Center, Amsterdam, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S008525381550229
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http://dx.doi.org/10.1111/j.1523-1755.2004.00924.xDOI Listing
October 2004

Remarkable variability in renal disease in a large Slovenian family with Fabry disease.

Eur J Hum Genet 2004 Aug;12(8):678-81

Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia.

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http://dx.doi.org/10.1038/sj.ejhg.5201184DOI Listing
August 2004

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

Am J Hum Genet 2004 Jul 20;75(1):65-74. Epub 2004 May 20.

Cedars-Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA.

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http://dx.doi.org/10.1086/422366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182009PMC
July 2004

Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease.

Hum Pathol 2003 Dec;34(12):1358; author reply 1358-9

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http://dx.doi.org/10.1016/s0046-8177(03)00396-4DOI Listing
December 2003

Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency).

Blood Cells Mol Dis 2003 Nov-Dec;31(3):324-6

Department of Internal Medicine, Clinical Haematology, F4-224 Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/s1079-9796(03)00163-3DOI Listing
July 2004

alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.

Nephrol Dial Transplant 2003 Aug;18(8):1581-4

Department of Internal Medicine, Clinical Haematology, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfg194DOI Listing
August 2003

Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.

Am J Hum Genet 2003 Jan 6;72(1):23-31. Epub 2002 Dec 6.

Department of Biochemistry, University of Amsterdam, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC420010PMC
http://dx.doi.org/10.1086/345309DOI Listing
January 2003

Plasma thrombopoietin levels in patients with chronic renal failure.

Hematol J 2002 ;3(1):38-42

Department of Hematology, Academic Medical Centre/Netherlands Cancer Institute, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.thj.6200153DOI Listing
July 2003