Concepedia

Enriko Klootwijk

EK

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 genetics, hereditary renal diseases, and molecular genetics.

Publications per year

2009–2019

13

Publications

13

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations

Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 580 citations · Full text

, , +17

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 · 129 citations · Full text

, , +17

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 · 114 citations · Full text

, , +17

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Graciana Jaureguiberry, Muriel de La Dure‐Molla, David Parry et al. · Nephron Physiology · 2013 · 103 citations · Full text

, , +16

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 · 93 citations · Full text

, , +15

1–5 of 13