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Enriko D. Klootwijk

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
2009 · Detlef Bockenhauer, Sally Feather, et al. · New England Journal of Medicine · 595
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Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome
2014 · Enriko D. Klootwijk, Markus Reichold, et al. · New England Journal of Medicine · 129
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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
2017 · Oscar Rubio Cabezas, Sarah E. Flanagan, et al. · Journal of the American Society of Nephrology · 114
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
2013 · Graciana Jaureguiberry, Muriel De la Dure-Molla, et al. · Nephron Physiology · 106
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Renal Fanconi syndrome: taking a proximal look at the nephron
2014 · Enriko D. Klootwijk, Markus Reichold, et al. · Nephrology Dialysis Transplantation · 99
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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
2018 · Markus Reichold, Enriko D. Klootwijk, et al. · Journal of the American Society of Nephrology · 96
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome
2019 · Stephanie Dufek, Chris Cheshire, et al. · Journal of the American Society of Nephrology · 61
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Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy
2016 · Nadine Assmann, Katja Dettmer, et al. · Cell Reports · 40
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KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16
2013 · Sophie Parrock, Sofia Hussain, et al. · Nephron Physiology · 40
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Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A
2019 · Valentina Marchesin, Albert Pérez-Martí, et al. · Cell Reports · 39
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The Gne M712T Mouse as a Model for Human Glomerulopathy
2012 · Sravan Kakani, Tal Yardeni, et al. · American Journal Of Pathology · 34
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OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
2010 · Marjan Huizing, Heidi Dorward, et al. · Molecular Genetics and Metabolism · 30
ATP and arterial calcification
2013 · Richard S. Fish, Enriko Klootwijk, et al. · European Journal of Clinical Investigation · 17
Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations
2011 · Stephen D. Marks, Ambrose M. Gullett, et al. · Pediatric Nephrology · 16
Literature review of the mechanisms of acute kidney injury secondary to acute liver injury
2022 · Esther Platt, Enriko Klootwijk, et al. · World Journal of Nephrology · 15
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness
2022 · Naomi Issler, Sara Afonso, et al. · Journal of the American Society of Nephrology · 13
A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis
2014 · Luxme Nadarajah, Maryam Khosravi, et al. · The Lancet · 13
Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome
2016 · Enriko Klootwijk, Stephanie Dufek, et al. · Expert Opinion on Orphan Drugs · 8
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Quantification of FAM20A in human milk and identification of calcium metabolism proteins
2021 · Vaksha Patel, Enriko Klootwijk, et al. · Physiological Reports · 5
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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
2018 · Cabezas OR, Flanagan SE, et al. · Yearbook of pediatric endocrinology · 5
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility
2023 · Katrin Meindl, Naomi Issler, et al. · Frontiers in Cell and Developmental Biology · 4
The influence of Rauscher Leukemia Virus (R-MuLV) on the differentiation of red blood cells in BALB/c mice
1979 · N.J. de Both, E. Klootwijk, et al. · Leukemia Research · 2
Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?
2011 · R. Kleta, E. Klootwijk, et al. · Nephrology Dialysis Transplantation · 1
Minocycline prevents gentamicin-induced nephrotoxicity by targeting m6A RNA methylation
2025 · Carmen Cusack, Tayeba Roper, et al.
Live Imaging Coupled with Image-Based Machine Learning Uncovers Potential Drivers and Therapeutic Targets in a Human Model of Ischaemic Reperfusion Injury
2023 · Carmen M. Cusack, Harry Horsley, et al. · Journal of the American Society of Nephrology
Works count: 38
Citation count: 1,478
H-index: 15
I10-index: 17
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