Rene Santer

Rene Santer

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Rene Santer

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Phenotype in an Infant with Homozygous Truncating Mutation.

N Engl J Med 2019 08 17;381(5):486-488. Epub 2019 Jul 17.

University Medical Center Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1056/NEJMc1905039DOI Listing
August 2019

Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor-Recipient Pairs.

Liver Transpl 2019 Jun 19;25(6):889-900. Epub 2019 Apr 19.

Department of Hepatobiliary Surgery and Visceral Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/lt.25423
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http://dx.doi.org/10.1002/lt.25423DOI Listing
June 2019

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.

Clin Chim Acta 2019 May 13;492:69-71. Epub 2019 Feb 13.

Metabolic Laboratory, Center of Diagnostics, Hamburg, Germany; NCL Clinic, Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2019.02.010DOI Listing
May 2019

Exome Sequencing in Children.

Dtsch Arztebl Int 2019 Mar;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

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http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 2019

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Am J Hum Genet 2018 10;103(4):579-591

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174322PMC
October 2018

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.

Childs Nerv Syst 2018 03 22;34(3):581-584. Epub 2017 Nov 22.

Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00381-017-3666-9DOI Listing
March 2018

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Genet Med 2018 Feb 27;20(2):259-268. Epub 2017 Jul 27.

Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster, Germany.

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http://dx.doi.org/10.1038/gim.2017.106DOI Listing
February 2018

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

Hum Mutat 2017 11 6;38(11):1511-1520. Epub 2017 Sep 6.

Division of Pediatric Stem Cell Transplantation and Immunology, Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/humu.23306
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http://dx.doi.org/10.1002/humu.23306DOI Listing
November 2017

The first case of domino-split-liver transplantation in maple syrup urine disease.

Pediatr Transplant 2017 Sep 5;21(6). Epub 2017 Jun 5.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1111/petr.12993DOI Listing
September 2017

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Mol Genet Metab 2017 07 22;121(3):206-215. Epub 2017 May 22.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Division of Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.014DOI Listing
July 2017

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.

JIMD Rep 2018 12;39:25-30. Epub 2017 Jul 12.

University Children's Hospital, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, Building O45, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/8904_2017_44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953902PMC
July 2017

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

J Inherit Metab Dis 2016 09 22;39(5):697-704. Epub 2016 Apr 22.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9932-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987401PMC
September 2016

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.

JAMA Neurol 2016 09;73(9):1133-40

Department of Pediatric Hematology and Oncology, University Children's Hospital of Tübingen, Tübingen, Germany6Department of Pediatric Hematology and Oncology, University Children's Hospital Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1001/jamaneurol.2016.2067DOI Listing
September 2016

Phenylketonuria: Direct and indirect effects of phenylalanine.

Exp Neurol 2016 07 14;281:28-36. Epub 2016 Apr 14.

Institute of Neuroanatomy, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00144886163009
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http://dx.doi.org/10.1016/j.expneurol.2016.04.013DOI Listing
July 2016

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.

J Lipid Res 2015 Aug 24;56(8):1625-32. Epub 2015 Jun 24.

Biochemistry Section, Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1194/jlr.M060756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514003PMC
August 2015

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.

BMC Gastroenterol 2015 Jul 28;15:90. Epub 2015 Jul 28.

Department of Paediatrics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, D-20246, Hamburg, Germany.

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http://dx.doi.org/10.1186/s12876-015-0316-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515929PMC
July 2015

Hippocampal synaptic connectivity in phenylketonuria.

Hum Mol Genet 2015 Feb 8;24(4):1007-18. Epub 2014 Oct 8.

Institute of Neuroanatomy,

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http://dx.doi.org/10.1093/hmg/ddu515DOI Listing
February 2015

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

JIMD Rep 2015 6;15:123-32. Epub 2014 May 6.

Metabolic Laboratory, Department of Paediatrics, Institute of Clinical Chemistry, Hamburg University Medical Centre, Martinistr. 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/8904_2014_308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270870PMC
December 2014

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.

J Inherit Metab Dis 2014 Sep 1;37(5):775-81. Epub 2014 Apr 1.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany,

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http://link.springer.com/10.1007/s10545-014-9702-y
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http://dx.doi.org/10.1007/s10545-014-9702-yDOI Listing
September 2014

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

J Invest Dermatol 2014 Aug 27;134(8):2146-2153. Epub 2014 Feb 27.

Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University of Chieti-Pescara, Chieti, Italy; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153694
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http://dx.doi.org/10.1038/jid.2014.119DOI Listing
August 2014

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.

Liver Transpl 2014 Apr 25;20(4):464-72. Epub 2014 Feb 25.

Department of Pediatric Hepatology and Liver Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/lt.23830DOI Listing
April 2014

Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.

Eur J Pediatr 2013 Sep 24;172(9):1249-53. Epub 2013 Jul 24.

Department of Pediatrics and Child Health, Aga Khan University Hospital, Stadium Road, P.O. Box 3500, Karachi 74800, Pakistan.

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http://dx.doi.org/10.1007/s00431-013-2084-6DOI Listing
September 2013

Glyceroluria and neonatal hemochromatosis.

J Pediatr Gastroenterol Nutr 2012 Oct;55(4):e126-8

Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

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http://dx.doi.org/10.1097/MPG.0b013e3182347a26DOI Listing
October 2012

Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups.

GMS Z Med Ausbild 2011 4;28(1):Doc15. Epub 2011 Jan 4.

Universitätsklinikum Hamburg-Eppendorf, Klinik für Psychiatrie und Psychotherapie, Hamburg, Deutschland.

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http://www.egms.de/en/journals/zma/2011-28/zma000727.shtml
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http://dx.doi.org/10.3205/zma000727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140396PMC
August 2012

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

Neuropediatrics 2012 Jun 23;43(3):168-71. Epub 2012 May 23.

Division of Metabolic Disorders, Department of General Paediatrics, Centre for Paediatric and Adolescent Medicine, Heidelberg, Germany.

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http://dx.doi.org/10.1055/s-0032-1315433DOI Listing
June 2012

A child with night blindness: preventing serious symptoms of Refsum disease.

J Child Neurol 2012 May 7;27(5):654-6. Epub 2011 Dec 7.

Clinic for Degenerative Brain Diseases, Children's Hospital, University Medical Center Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1177/0883073811424799DOI Listing
May 2012

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Orphanet J Rare Dis 2012 May 29;7:31. Epub 2012 May 29.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, and Zürich Center for Integrative Human Physiology (ZHIP), University of Zürich, Steinwiesstraße 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495011PMC
May 2012

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Mol Genet Metab 2012 Mar 8;105(3):433-7. Epub 2011 Dec 8.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2011.11.200DOI Listing
March 2012

Fanconi-Bickel syndrome and fertility.

Am J Med Genet A 2011 Oct 9;155A(10):2607. Epub 2011 Sep 9.

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http://dx.doi.org/10.1002/ajmg.a.34202DOI Listing
October 2011

Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.

Am J Med Genet A 2011 Aug 7;155A(8):2028-30. Epub 2011 Jul 7.

Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University, Szczecin, Poland.

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http://dx.doi.org/10.1002/ajmg.a.34099DOI Listing
August 2011

Effect of kidney disease on glucose handling (including genetic defects).

Kidney Int Suppl 2011 Mar(120):S7-13

Department of Genetics, Faculty of Medical Sciences, New University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1038/ki.2010.510DOI Listing
March 2011

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

Pediatr Blood Cancer 2010 May;54(5):758-60

Department of Pediatric Hematology and Oncology, University Medical Center Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/pbc.22390DOI Listing
May 2010

Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

Clin J Am Soc Nephrol 2010 Jan 5;5(1):133-41. Epub 2009 Nov 5.

Department of Genetics, Faculty of Medical Sciences, Institute of Hygiene and Tropical Medicine, Universidade Nova de Lisboa, Rua da Junqueira no 96, 1349-008, Lisbon, Portugal.

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http://dx.doi.org/10.2215/CJN.04010609DOI Listing
January 2010

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

Mitochondrion 2009 Nov 8;9(6):438-42. Epub 2009 Aug 8.

Departments of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2009.08.003DOI Listing
November 2009

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

Nephrol Dial Transplant 2008 Dec 12;23(12):3874-9. Epub 2008 Jul 12.

Departamento de Genética da Faculdade de Ciências Médicas, Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1093/ndt/gfn386DOI Listing
December 2008

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.

Am J Med Genet A 2008 Dec;146A(24):3227-9

Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Christian-Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32577DOI Listing
December 2008

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

Arch Neurol 2008 Aug;65(8):1108-13

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center, Study of Children's Mitochondrial Disorders, C Besta Neurological Institute Foundation, Milano, Italy.

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http://dx.doi.org/10.1001/archneur.65.8.1108DOI Listing
August 2008

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

Mol Genet Metab 2008 Jul 25;94(3):292-7. Epub 2008 Apr 25.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin, Albert-Schweitzer-Strasse 33, 48149 Münster, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920800074
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http://dx.doi.org/10.1016/j.ymgme.2008.03.009DOI Listing
July 2008

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

Mol Genet Metab 2008 Mar 3;93(3):295-305. Epub 2007 Dec 3.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2007.10.004DOI Listing
March 2008

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

FEBS Lett 2006 Jun 15;580(14):3489-92. Epub 2006 May 15.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Germany.

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http://dx.doi.org/10.1016/j.febslet.2006.05.026DOI Listing
June 2006

Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

Mol Nutr Food Res 2006 Apr;50(4-5):443-50

Department of Pediatrics, Hamburg University Medical Center, Germany.

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http://dx.doi.org/10.1002/mnfr.200500186DOI Listing
April 2006

Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.

Mol Genet Metab 2005 Dec 8;86(4):473-7. Epub 2005 Nov 8.

Department of Pediatrics, Divisions of Human Genetics and Molecular Biology and Endocrinology and Diabetes, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500301
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http://dx.doi.org/10.1016/j.ymgme.2005.09.010DOI Listing
December 2005

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Brain 2005 Apr 2;128(Pt 4):723-31. Epub 2005 Feb 2.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Institute of Neurology, Milano, Italy.

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http://dx.doi.org/10.1093/brain/awh410DOI Listing
April 2005

Long-term outcome of renal glucosuria type 0: the original patient and his natural history.

Nephrol Dial Transplant 2004 Sep;19(9):2394-6

Department of Pediatrics, Medical School Hannover, Hannover, Germany.

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http://dx.doi.org/10.1093/ndt/gfh366DOI Listing
September 2004

The boy with massive glucosuria.

Nephrol Dial Transplant 2004 May;19(5):1319-20

Division of Nephrology, Medical Centre Arabkir, Yerevan, Armenia.

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http://dx.doi.org/10.1093/ndt/gfh088DOI Listing
May 2004

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.

Clin Chim Acta 2004 Mar;341(1-2):23-6

Department of General Pediatrics, University Children's Hospital, Moorenstr. 5, D-40225 Düsseldorf, Germany.

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http://dx.doi.org/10.1016/j.cccn.2003.10.023DOI Listing
March 2004

Nephrolithiasis in a child with glucose-galactose malabsorption.

Pediatr Nephrol 2004 Feb 11;19(2):244-6. Epub 2003 Dec 11.

Department of Pediatric Nephrology, University Children's Hospital, 17 Vodnjanska, 1000 Skopje, Macedonia.

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http://dx.doi.org/10.1007/s00467-003-1327-6DOI Listing
February 2004

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

Hum Mutat 2004 Jan;23(1):85-91

Division of Gastroenterology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://doi.wiley.com/10.1002/humu.10297
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http://dx.doi.org/10.1002/humu.10297DOI Listing
January 2004

Feeding patterns in breast-fed and formula-fed infants.

Ann Nutr Metab 2002 ;46(6):243-8

Department of Paediatrics, University of Kiel, Germany.

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http://dx.doi.org/10.1159/000066498DOI Listing
April 2003

Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.

Gastroenterology 2003 Jan;124(1):34-9

University Children's Hospital, Schwanenweg 20, D-24105 Kiel, Germany.

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http://dx.doi.org/10.1053/gast.2003.50009DOI Listing
January 2003

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

J Pediatr 2002 Nov;141(5):729-33

Department of Clinical Chemistry, the Department of Pediatrics, Emma Children's Hospital, and Laboratory Neurozintuigen, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1067/mpd.2002.129174DOI Listing
November 2002