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Article

A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations.

Brain & development - 1 Jan 2011

Segawa Yoshie, Matsufuji Mayumi, Itokazu Naoya, Utsunomiya Hidetsuna, Watanabe Yoriko, Yoshino Makoto, Takashima Sachio

Abstract excerpt

Neuropathology and neuroimaging of long-term survival cases of arginase deficiency are rarely reported. The magnetic resonance imaging (MRI) of our case showed severe multicystic white matter lesions with cortical atrophy, which were more severe compared with previous reports. In this patient, lo...

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PMID: 20456883
DOI: 10.1016/j.braindev.2010.03.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20456883-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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