Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

doi:10.1056/NEJMoa1307581

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Article

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

The New England journal of medicine - 9 Jan 2014

Klootwijk Enriko D, Reichold Markus, Helip-Wooley Amanda, Tolaymat Asad, Broeker Carsten, Robinette Steven L, Reinders Joerg, Peindl Dominika, Renner Kathrin, Eberhart Karin, Assmann Nadine, Oefner Peter J, Dettmer Katja, Sterner Christina, Schroeder Josef, Zorger Niels, Witzgall Ralph, Reinhold Stephan W, Stanescu Horia C, Bockenhauer Detlef, Jaureguiberry Graciana, Courtneidge Holly, Hall Andrew M, Wijeyesekera Anisha D, Holmes Elaine, Nicholson Jeremy K, O'Brien Kevin, Bernardini Isa, Krasnewich Donna M, Arcos-Burgos Mauricio, Izumi Yuichiro, Nonoguchi Hiroshi, Jia Yuzhi, Reddy Janardan K, Ilyas Mohammad, Unwin Robert J, Gahl William A, Warth Richard, Kleta Robert

Abstract excerpt

BACKGROUND: 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. METHODS: We clinically and geneti...

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Identifiers

PMID: 24401050
DOI: 10.1056/NEJMoa1307581

Genes

EHHADH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24401050-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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