Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome | Zendy

Enriko Klootwijk | Zendy; Markus Reichold | Zendy; Amanda HelipWooley | Zendy; Asad Tolaymat | Zendy; Carsten Broeker | Zendy; Steven L. Robinette | Zendy; Jörg Reinders | Zendy; Dominika Elisabeth Peindl | Zendy; Kathrin Renner | Zendy; Karin Eberhart | Zendy; Nadine Aßmann | Zendy; Peter J. Oefner | Zendy; Katja Dettmer | Zendy; Christina Sterner | Zendy; Josef Schroeder | Zendy; Niels Zorger | Zendy; Ralph Witzgall | Zendy; Stephan W. Reinhold | Zendy; Horia Stanescu | Zendy; Detlef Böckenhauer | Zendy; Graciana Jaureguiberry | Zendy; Holly Courtneidge | Zendy; Andrew M. Hall | Zendy; Anisha Wijeyesekera | Zendy; Elaine Holmes | Zendy; Jeremy K. Nicholson | Zendy; Kevin O’Brien | Zendy; Isa Bernardini | Zendy; Donna M. Krasnewich | Zendy; Mauricio ArcosBurgos | Zendy; Yuichiro Izumi | Zendy; Hiroshi oguchi | Zendy; Yuzhi Jia | Zendy; Janardan K. Reddy | Zendy; Mohammad Ilyas | Zendy; Robert J. Unwin | Zendy; William A. Gahl | Zendy; Richard Warth | Zendy; Robert Kleta | Zendy

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Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

Author(s) -

Enriko Klootwijk,

Markus Reichold,

Amanda HelipWooley,

Asad Tolaymat,

Carsten Broeker,

Steven L. Robinette,

Jörg Reinders,

Dominika Elisabeth Peindl,

Kathrin Renner,

Karin Eberhart,

Nadine Aßmann,

Peter J. Oefner,

Katja Dettmer,

Christina Sterner,

Josef Schroeder,

Niels Zorger,

Ralph Witzgall,

Stephan W. Reinhold,

Horia Stanescu,

Detlef Böckenhauer,

Graciana Jaureguiberry,

Holly Courtneidge,

Andrew M. Hall,

Anisha Wijeyesekera,

Elaine Holmes,

Jeremy K. Nicholson,

Kevin O’Brien,

Isa Bernardini,

Donna M. Krasnewich,

Mauricio ArcosBurgos,

Yuichiro Izumi,

Hiroshi oguchi,

Yuzhi Jia,

Janardan K. Reddy,

Mohammad Ilyas,

Robert J. Unwin,

William A. Gahl,

Richard Warth,

Robert Kleta

Publication year - 2014

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1307581

Subject(s) - fanconi syndrome , missense mutation , biology , mitochondrion , genetics , mutation , microbiology and biotechnology , kidney , gene

In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause and underlying defect remain unknown.

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