Concepedia
Statistics
Publications
13
Citations
1.3K
H-Index
12
Active since
2009
Affiliations
University College London(Current)
National Human Genome Research Institute
National Institutes of Health
University of Regensburg
University of Zurich
Enriko Klootwijk is an author at University College London specializing in medicine, urology, and pathology.
Top concepts
MedicineUrologyPathologyGeneticsNephrologyCell BiologyHypertensionOsteoporosisRenal DiseaseGene Expression
Publications per year
2009–2019
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations
Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 568 citations · Full text
Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome
Enriko Klootwijk, Markus Reichold, Amanda Helip‐Wooley et al. · New England Journal of Medicine · 2014 · 123 citations · Full text
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
Óscar Rubio Cabezas, Sarah E. Flanagan, Horia Stanescu et al. · Journal of the American Society of Nephrology · 2017 · 111 citations · Full text
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Graciana Jaureguiberry, Muriel de La Dure‐Molla, David Parry et al. · Nephron Physiology · 2013 · 102 citations · Full text
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
Markus Reichold, Enriko Klootwijk, Jörg Reinders et al. · Journal of the American Society of Nephrology · 2018 · 87 citations · Full text
1–5 of 13