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Article

Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.

Scientific reports - 27 Mar 2017

Pfaender Stefanie, Sauer Ann Katrin, Hagmeyer Simone, Mangus Katharina, Linta Leonhard, Liebau Stefan, Bockmann Juergen, Huguet Guillaume, Bourgeron Thomas, Boeckers Tobias M, Grabrucker Andreas M

Abstract excerpt

Phelan McDermid Syndrome (PMDS) is a genetic disorder characterized by features of Autism spectrum disorders. Similar to reports of Zn deficiency in autistic children, we have previously reported high incidence of Zn deficiency in PMDS. However, the underlying mechanisms are currently not well understood. Here, using inductively coupled plasma mass-spectrometry to measure the concentration of Zinc (Zn) and Copper...

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PMID: 28345660
DOI: 10.1038/srep45190
PMCID: PMC5366950

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