Mirian C H Janssen

Mirian C H Janssen

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Mirian C H Janssen

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Does the 48-hour BH4 loading test miss responsive PKU patients?

Mol Genet Metab 2020 Mar 24;129(3):186-192. Epub 2019 Dec 24.

Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.12.011DOI Listing
March 2020

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Mol Genet Metab 2020 Mar 9;129(3):171-176. Epub 2020 Jan 9.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.01.002DOI Listing
March 2020

Association of Body Composition, Physical Functioning, and Protein Intake in Adult Patients With Mitochondrial Diseases.

JPEN J Parenter Enteral Nutr 2020 Mar 19. Epub 2020 Mar 19.

Department of Gastroenterology and Hepatology-Dietetics, Radboudumc, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/jpen.1826DOI Listing
March 2020

Psychological functioning in children suspected for mitochondrial disease: the need for care.

Orphanet J Rare Dis 2020 Mar 24;15(1):76. Epub 2020 Mar 24.

Radboud Institute for Health Sciences, Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-020-1342-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092429PMC
March 2020

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet J Rare Dis 2020 Feb 7;15(1):42. Epub 2020 Feb 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-019-1277-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007688PMC
February 2020

Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation.

Nutrition 2020 01 4;69:110544. Epub 2019 Jul 4.

Radboudumc, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.nut.2019.06.025DOI Listing
January 2020

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.

Clin Kidney J 2019 Dec 21;12(6):840-846. Epub 2019 Apr 21.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/ckj/sfz020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885678PMC
December 2019

The need for additional care in patients with classical galactosaemia.

Disabil Rehabil 2019 Nov 31;41(22):2663-2668. Epub 2018 May 31.

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

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http://dx.doi.org/10.1080/09638288.2018.1475514DOI Listing
November 2019

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Mitochondrion 2019 03 19;45:38-45. Epub 2018 Feb 19.

Mitochondria Research Laboratory, Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.02.003DOI Listing
March 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

Mol Genet Genomic Med 2019 02 4;7(2):e00523. Epub 2018 Dec 4.

Department of Pediatrics, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393655PMC
February 2019

Fear of disease progression in carriers of the m.3243A > G mutation.

Orphanet J Rare Dis 2018 11 13;13(1):203. Epub 2018 Nov 13.

Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0951-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234600PMC
November 2018

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Transl Res 2018 09 10;199:62-76. Epub 2018 May 10.

Department of Neurology and Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.trsl.2018.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041963PMC
September 2018

Anthropomorphic measurements and nutritional biomarkers after 5 years of BH treatment in phenylketonuria patients.

Mol Genet Metab 2018 08 20;124(4):238-242. Epub 2018 Jun 20.

University of Groningen, University Medical Center Groningen, Division of Metabolic Diseases, PO box 30.001, 9700 RB Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.009DOI Listing
August 2018

Quantification of gait in children with mitochondrial disease.

J Inherit Metab Dis 2018 07 12;41(4):731-740. Epub 2018 Mar 12.

Radboud Center for Mitochondrial Medicine (RCMM) at the Department of Pediatrics, Radboud University Medical Center Nijmegen, Geert Grooteplein Zuid 10, PO BOX 9101, 6500 HB, Nijmegen, The Netherlands.

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http://link.springer.com/10.1007/s10545-018-0148-5
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http://dx.doi.org/10.1007/s10545-018-0148-5DOI Listing
July 2018

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.

J Pediatr 2018 05 13;196:309-313.e3. Epub 2018 Feb 13.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476173173
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http://dx.doi.org/10.1016/j.jpeds.2017.12.043DOI Listing
May 2018

Patients With Mitochondrial Disease Have an Inadequate Nutritional Intake.

JPEN J Parenter Enteral Nutr 2018 03 18;42(3):581-586. Epub 2017 Dec 18.

Radboud Center for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1177/0148607117699792
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http://dx.doi.org/10.1177/0148607117699792DOI Listing
March 2018

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Orphanet J Rare Dis 2017 10 27;12(1):170. Epub 2017 Oct 27.

Radboud Center for Mitochondrial Medicine (RCMM) at the Department of Pediatrics, Radboud University Medical Center Nijmegen, Geert Grooteplein Zuid 10, PO BOX 9101, 6500 HB, Nijmegen, The Netherlands.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0688-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5660442PMC
October 2017

Three families with 'de novo' m.3243A > G mutation.

BBA Clin 2016 Dec 29;6:19-24. Epub 2016 Apr 29.

Radboud University Medical Center Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbacli.2016.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900294PMC
December 2016

International Paediatric Mitochondrial Disease Scale.

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9948-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987390PMC
September 2016

Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.

JIMD Rep 2017 5;31:95-99. Epub 2016 May 5.

Department of Internal Medicine, Radboud University Medical Center, 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272844PMC
May 2016

Low Plasma Volume in Normotensive Formerly Preeclamptic Women Predisposes to Hypertension.

Hypertension 2015 Nov 14;66(5):1066-72. Epub 2015 Sep 14.

From the Departments of Obstetrics and Gynecology (R.R.S., F.K.L.), Physiology (R.R.S., M.T.H.), Cardiology (A.V.D., M.V.d.V.), and Internal Medicine (M.C.H.J.), Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; and Department of Obstetrics and Gynecology, Research School GROW, Maastricht University Medical Centre, Maastricht, The Netherlands (M.E.A.S.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.115.05934DOI Listing
November 2015

Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.

Mitochondrion 2015 Nov 9;25:98-103. Epub 2015 Oct 9.

Radboudumc Amalia Children's Hospital, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Nijmegen, The Netherlands; Radboudumc, Department of Internal Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2015.10.005DOI Listing
November 2015

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

JIMD Rep 2015 13;24:69-81. Epub 2015 May 13.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Amalia Children's Hospital, Radboudumc, Geert Grooteplein 10, 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2015_436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582022PMC
September 2015

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

J Inherit Metab Dis 2015 May 11;38(3):477-82. Epub 2014 Oct 11.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9773-9DOI Listing
May 2015

The quality of hereditary haemochromatosis guidelines: a comparative analysis.

Clin Res Hepatol Gastroenterol 2015 Apr 23;39(2):205-14. Epub 2014 Oct 23.

Academic Center for General Practice, KU Leuven, Belgium; Scientific Institute for Quality of Healthcare, Radboud University Medical Centre, Nijmegen Centre for Evidence-Based Practice, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clinre.2014.09.001DOI Listing
April 2015

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Mol Genet Metab 2015 Mar 12;114(3):425-30. Epub 2014 Dec 12.

Department of Clinical Child and Adolescents Studies, Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.12.302DOI Listing
March 2015

New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome.

Clin Rheumatol 2014 Sep 24;33(9):1341-6. Epub 2014 Apr 24.

Department of Rheumatology, Radboud University Medical Centre, Geert Grooteplein Noord 8, 6525 GA, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10067-014-2620-4DOI Listing
September 2014

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

Mol Genet Metab 2013 22;110 Suppl:S57-61. Epub 2013 Oct 22.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.011DOI Listing
July 2014

Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.

Neurology 2014 Jul 6;83(2):125-33. Epub 2014 Jun 6.

From the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders (S.K., P.d.L., R.J.T.R., M.C.H.J., J.A.M.S.), and Departments of Laboratory Medicine (D.H.v.T., A.M.B., F.C.G.J.S.), Radiology and Nuclear Medicine (D.V.), Health Evidence (A.R.T.D.), and General Internal Medicine (M.C.H.J.), Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000578DOI Listing
July 2014

Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.

Ophthalmology 2013 Dec 24;120(12):2684-2696. Epub 2013 Jun 24.

Radboud University Nijmegen Medical Centre, Institute of Ophthalmology, Nijmegen, The Netherlands; Nuffield Laboratory of Ophthalmology and Oxford Eye Hospital Biomedical Research Centre, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.05.013DOI Listing
December 2013

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Eur J Hum Genet 2013 Aug 12;21(8):807-15. Epub 2012 Dec 12.

Department of Internal Medicine, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722672PMC
August 2013

Diurnal rhythm rather than dietary iron mediates daily hepcidin variations.

Clin Chem 2013 Mar 11;59(3):527-35. Epub 2012 Dec 11.

Laboratory of Genetic, Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1373/clinchem.2012.194977DOI Listing
March 2013

[Complications due to receiving incorrect amino acid preparations].

Ned Tijdschr Geneeskd 2013 ;157(3):A5183

Erasmus MC, Afd. Diëtetiek, Rotterdam, the Netherlands.

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March 2013

Inheritance of the m.3243A>G mutation.

JIMD Rep 2013 6;8:47-50. Epub 2012 Jul 6.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/8904_2012_159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565654PMC
February 2013

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.

J Chromatogr B Analyt Technol Biomed Life Sci 2012 Dec 3;911:186-91. Epub 2012 Nov 3.

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S15700232120065
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http://dx.doi.org/10.1016/j.jchromb.2012.10.041DOI Listing
December 2012

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

J Inherit Metab Dis 2012 Nov 9;35(6):1059-69. Epub 2012 Mar 9.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Huispost 804, Geert Grooteplein 10, 6500, HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1007/s10545-012-9465-2
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http://dx.doi.org/10.1007/s10545-012-9465-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470685PMC
November 2012

[Erythrocytapheresis for hereditary haemochromatosis].

Ned Tijdschr Geneeskd 2012 ;156(26):A4745

Sanquin Bloedbank, unit klinisch consultatieve dienst, Maastricht, the Netherlands.

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September 2012

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.

Atherosclerosis 2012 Jun 24;222(2):509-11. Epub 2012 Mar 24.

Department of Clinical Chemistry, Metabolic Unit, Institute for Cardiovascular Research (ICAR-VU), VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.atherosclerosis.2012.03.009DOI Listing
June 2012

Non-invasive measurements of atherosclerosis in adult cystinosis patients.

J Inherit Metab Dis 2011 Jun 9;34(3):811-8. Epub 2011 Feb 9.

Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.

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http://link.springer.com/10.1007/s10545-011-9281-0
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http://dx.doi.org/10.1007/s10545-011-9281-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109266PMC
June 2011

[New causes of microcytic anaemia: hereditary disorders of iron homeostasis].

Ned Tijdschr Geneeskd 2010 ;154:A1039

Universitair Medisch Centrum St. Radboud, Afd. Hematologie, Nijmegen, the Netherlands.

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September 2010

[Regular discussion of serious complications during admission to an internal medicine department].

Ned Tijdschr Geneeskd 2010 ;154:A1032

Universitair Medisch Centrum Nijmegen, Afd. Algemene Interne geneeskunde, St Radboud, Nijmegen.

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June 2010

Fertility status in male cystinosis patients treated with cysteamine.

Fertil Steril 2010 Apr 12;93(6):1880-3. Epub 2009 Feb 12.

Department of Pediatrics/Pediatric Nephrology, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.fertnstert.2008.12.113DOI Listing
April 2010

Tumoral calcinosis.

J Inherit Metab Dis 2010 Feb 5;33(1):91-2. Epub 2010 Jan 5.

Department of General Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-009-9019-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828561PMC
February 2010

Ischemic neuropathy and rhabdomyolysis as presenting symptoms of postpartum cardiomyopathy.

J Thromb Thrombolysis 2009 May 26;27(4):458-60. Epub 2008 Jun 26.

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s11239-008-0237-7DOI Listing
May 2009

Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels.

Br J Haematol 2008 Sep 28;142(6):979-85. Epub 2008 Jun 28.

Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-2141.2008.07273.xDOI Listing
September 2008

Hereditary hemochromatosis: genetic complexity and new diagnostic approaches.

Clin Chem 2006 Jun 20;52(6):950-68. Epub 2006 Apr 20.

Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen.

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http://dx.doi.org/10.1373/clinchem.2006.068684DOI Listing
June 2006

The post-thrombotic syndrome: incidence and prognostic value of non-invasive venous examinations in a six-year follow-up study.

Thromb Haemost 2005 Oct;94(4):825-30

Department of General Internal Medicine, University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1160/TH05-03-0146DOI Listing
October 2005

Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors.

Thromb Haemost 2005 Jun;93(6):1021-6

Department of General Internal Medicine 591, Radboud University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1160/TH04-11-0768DOI Listing
June 2005