Enriko Klootwijk

Enriko Klootwijk

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Enriko Klootwijk

Enriko Klootwijk

Publications by authors named "Enriko Klootwijk"

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15Publications

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Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.

Cell Rep 2016 05 5;15(7):1423-1429. Epub 2016 May 5.

Institute of Functional Genomics, University of Regensburg, 93053 Regensburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.04.037DOI Listing
May 2016

Renal Fanconi syndrome: taking a proximal look at the nephron.

Nephrol Dial Transplant 2015 Sep 9;30(9):1456-60. Epub 2014 Dec 9.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1093/ndt/gfu377DOI Listing
September 2015

A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis.

Lancet 2014 Jan;383(9911):98

UCL Centre for Nephrology, University College London, Rowland Hill Street, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(13)62673-2DOI Listing
January 2014

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

N Engl J Med 2014 Jan;370(2):129-38

From the Centre for Nephrology (E.D.K., H.C.S., D.B., G.J., H.C., A.M.H., R.J.U., R.K.) and Institute of Child Health (D.B., R.K.), University College London, and Biomolecular Medicine, Imperial College London (S.L.R., A.D.W., E.H., J.K.N.) - both in London; the Departments of Medical Cell Biology (M.R., C.B., D.P., C.S., R. Warth), Internal Medicine III (K.R.), Internal Medicine II (S.W.R.), and Molecular and Cellular Anatomy (R. Witzgall) and the Institutes of Functional Genomics (J.R., K.E., N.A., P.J.O., K.D.) and Pathology (J.S.), University of Regensburg, and the Department of Radiology, Barmherzige Brueder Hospital (N.Z.) - all in Regensburg, Germany; the National Human Genome Research Institute (A.H.-W., S.L.R., H.C.S., K.O., I.B., D.M.K., W.A.G., R.K.) and National Heart, Lung, and Blood Institute (Y.I.), National Institutes of Health, Bethesda, MD; the Division of Pediatric Nephrology, University of Florida, Jacksonville (A.T., M.I.); the Genome Biology Department, Australian National University, Canberra, ACT, Australia (M.A.-B.); Kitasato University Medical Center, Saitama, Japan (H.N.); and the Department of Pathology, Northwestern University, Chicago (Y.J., J.K.R.).

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http://dx.doi.org/10.1056/NEJMoa1307581DOI Listing
January 2014

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol 2012 23;122(1-2):1-6. Epub 2013 Feb 23.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1159/000349989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194PMC
October 2013

ATP and arterial calcification.

Eur J Clin Invest 2013 Apr 10;43(4):405-12. Epub 2013 Feb 10.

UCL Centre for Nephrology, UCL Medical School, London, UK.

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http://dx.doi.org/10.1111/eci.12055DOI Listing
April 2013

The Gne M712T mouse as a model for human glomerulopathy.

Am J Pathol 2012 Apr 7;180(4):1431-40. Epub 2012 Feb 7.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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http://dx.doi.org/10.1016/j.ajpath.2011.12.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349896PMC
April 2012

Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations.

Pediatr Nephrol 2011 Oct 8;26(10):1857-61. Epub 2011 May 8.

Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-011-1891-0DOI Listing
October 2011

Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?

Nephrol Dial Transplant 2011 Sep;26(9):2743-5

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1093/ndt/gfr437DOI Listing
September 2011