Concepedia

Enriko Klootwijk

EK

13

Publications

1.3K

Citations

12

H-Index

2009

Active since

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

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 · 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

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