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Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

11 Jan 2017

Abstract excerpt

Adenosine Deaminase (ADA) deficiency is an autosomal recessive variant of severe combined immunodeficiency (SCID) caused by systemic accumulation of ADA substrates. Neurological and behavioral abnormalities observed in ADA-SCID patients surviving after stem cell transplantation or gene therapy represent an unresolved enigma in the field. We found significant neurological and cognitive alterations in untreated...

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PMID: 28074903
DOI: 10.1038/srep40136

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