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Disease Presenting as Autosomal Recessive Hypercholesterolemia Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage

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Year: 2013
Type: article
Authors: G. Kees Hovingh, Stacey Gabriel, Joep C. Defesche, Aart J. Nederveen, Heribert Schunkert, Jeanette Erdmann, Nilesh J. Samani, Lawrence Charnas, Martin Farrall, Hugh Watkins, Muredach P. Reilly, Daniel J. Rader, Rebecca D. Jackson, Charles Kooperberg, Leslie A. Lange, Diego Ardissino, Stefano Duga, Majid Nikpay, Nicola Martinelli, Paul L. Auer, Anuj Goel, Bruna Gigante, Timothy Barnes, Olle Melander, O. Stitziel, Sigrid W. Fouchier, Barbara Sjouke, Gina M. Peloso, Alessa M. Moscoso
Language: English

Topic: Lysosomal Storage Disorders Research
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W2186181223
FWCI:
Cites: 22
Cited by:
Related to: 10
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