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E. Klootwijk · SciRah

Researcher profile · Semantic Scholar

E. Klootwijk

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E. Klootwijk — researcher profile on SciRah

h-index: 13
Works: 32
Citations: 1,317

Most-cited papers

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
D. Bockenhauer, S. Feather, H. Stanescu, S. Bandulik +26 more
2009New England Journal of Medicine551 citations Open access
Semantic Scholar
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
E. Klootwijk, M. Reichold, A. Helip-Wooley, A. Tolaymat +35 more
2014New England Journal of Medicine119 citations Open access
Semantic Scholar
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
G. Jaureguiberry, M. de la Dure-Molla, David A. Parry, Mickael Quentric +67 more
2013Nephron Physiology113 citations Open access
Semantic Scholar
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
O. R. Cabezas, S. Flanagan, H. Stanescu, E. García-Martínez +42 more
2017Journal of the American Society of Nephrology99 citations Open access
Semantic Scholar
Renal Fanconi syndrome: taking a proximal look at the nephron.
E. Klootwijk, M. Reichold, R. Unwin, R. Kleta +2 more
2015Nephrology, Dialysis and Transplantation92 citations Open access
Semantic Scholar
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
M. Reichold, E. Klootwijk, J. Reinders, E. Otto +50 more
2018Journal of the American Society of Nephrology66 citations Open access
Semantic Scholar
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
Stephanie Dufek, Chris Cheshire, A. P. Levine, R. Trompeter +31 more
2019Journal of the American Society of Nephrology47 citations Open access
Semantic Scholar
KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16
S. Parrock, S. Hussain, N. Issler, A. Differ +14 more
2013Nephron Physiology41 citations Open access
Semantic Scholar
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A
Valentina Marchesin, Albert Pérez-Martí, Gwenn Le Meur, Roman Pichler +6 more
2019Cell Reports38 citations Open access
Semantic Scholar
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
M. Huizing, H. Dorward, L. Ly, E. Klootwijk +6 more
2010Molecular Genetics and Metabolism35 citations Open access
Semantic Scholar
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
Nadine Assmann, K. Dettmer, Johann M B Simbürger, Carsten Broeker +10 more
2016Cell Reports33 citations Open access
Semantic Scholar
ATP and arterial calcification
R. Fish, E. Klootwijk, Frederick W. K. Tam, R. Kleta +3 more
2013European Journal of Clinical Investigation22 citations
Semantic Scholar
Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations
S. Marks, A. Gullett, E. Brennan, K. Tullus +5 more
2011Pediatric nephrology (Berlin, West)14 citations
Semantic Scholar
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness
N. Issler, Sara Afonso, I. Weissman, Katrin Jordan +46 more
2022Journal of the American Society of Nephrology12 citations Open access
Semantic Scholar
Literature review of the mechanisms of acute kidney injury secondary to acute liver injury
E. Platt, E. Klootwijk, A. Salama, B. Davidson +1 more
2022World Journal of Nephrology11 citations Open access
Semantic Scholar
A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis.
L. Nadarajah, M. Khosravi, Simona Dumitriu, E. Klootwijk +3 more
2014The Lancet11 citations
Semantic Scholar
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility
Katrin Meindl, N. Issler, S. Afonso, Alberto Cebrian-Serrano +9 more
2023Frontiers in Cell and Developmental Biology4 citations Open access
Semantic Scholar
Quantification of FAM20A in human milk and identification of calcium metabolism proteins
Vaksha Patel, E. Klootwijk, G. Whiting, D. Bockenhauer +9 more
2021Physiological Reports4 citations Open access
Semantic Scholar
Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome
E. Klootwijk, Stephanie Dufek, N. Issler, D. Bockenhauer +1 more
20174 citations Open access
Semantic Scholar
The influence of Rauscher leukemia virus (R-MuLV) on the differentiation of red blood cells in BALB/c mice.
N. D. de Both, E. Klootwijk, N. J. Verhoef, M. Schalekamp +2 more
1979Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis2 citations
Semantic Scholar
Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?
R. Kleta, E. Klootwijk, H. Stanescu, D. Bockenhauer
2011Nephrology, Dialysis and Transplantation1 citations
Semantic Scholar
Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2
O. R. Cabezas, S. Flanagan, H. Stanescu, E. García-Martínez +42 more
20170 citations
Semantic Scholar
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation
O. R. Cabezas, S. Flanagan, H. Stanescu, E. García-Martínez +50 more
20170 citations
Semantic Scholar
Renal Fanconi Syndrome I s Caused by a Mistargeting-Based Mitochondriopathy Graphical Abstract Highlights
Nadine Assmann, K. Dettmer, Johann M B Simbürger, Carsten Broeker +10 more
20160 citations
Semantic Scholar
ATP induced intracellular calcium signaling in Fam20a deficient proximal tubular cells
D. Debert, E. Klootwijk, N. Himmerkus, R. Kleta +1 more
20150 citations
Semantic Scholar
Dysfunctional mitochondrial trifunctional protein complex in patients with autosomal dominant renal Fanconi syndrome.
E. Klootwijk, M. Reichold, H. Stanescu, D. Bockenhauer +2 more
20150 citations
Semantic Scholar
Mitochondrial malfunction caused by protein mistargeting
Carsten Broeker, M. Reichold, E. Klootwijk, J. Reinders +4 more
20140 citations
Semantic Scholar
Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome
Simona Dumitriu, E. Klootwijk, N. Issler, H. Stanescu +2 more
20130 citations Open access
Semantic Scholar
Mitochondrial mistargeting causes autosomal dominant renal Fanconi syndrome.
E. Klootwijk, M. Reichold, A. Helip-Wooley, H. Stanescu +4 more
20120 citations
Semantic Scholar
Cardiovascular , Pulmonary , and Renal Pathology The Gne M 712 T Mouse as a Model for Human Glomerulopathy
Sravan Kakani, T. Yardeni, J. Poling, C. Ciccone +11 more
20120 citations
Semantic Scholar
Inositol and zinc related neural tube defects : genetic, morphological and supplementation studies in mouse : human genetic studies
E. Klootwijk
20040 citations
Semantic Scholar
World Journal of Nephrology
Esther Platt, E. Klootwijk, Alan Salama, Brian Davidson +3 more
0 citations
Semantic Scholar

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