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Case Reports
. 2004 Jan;26(1):57-60.
doi: 10.1016/s0387-7604(03)00072-x.

VSports在线直播 - Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms

Naoko Wada  1 , Toyojiro Matsuishi, Michiko Nonaka, Etsuo Naito, Makoto Yoshino
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Case Reports

Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms

Naoko Wada et al. Brain Dev. 2004 Jan.

Abstract

Enlargement of the lateral ventricles and atrophy of the brain were documented ultrasonographically in utero at as early as 28th week of gestation in a female patient with lactic acidosis due to deficiency of the pyruvate dehydrogenase E1alpha subunit, demonstrating that the changes characteristic of this disease can occur antenatally. The mechanism of infantile spasms in this disease may be linked to mosaicism of the brain cells involving the normal enzyme and the mutant enzyme VSports手机版. .

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