A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging

Journal of Clinical Ultrasound

Volumn 40, Issue 4, 2012, Pages 234-238

  Tamaru, Shunsuke ^a   Kikuchi, Akihiko ^a   Takagi, Kimiyo ^a   Okuno, Jiu ^a   Ishikawa, Kaori ^a   Imada, Shinya ^a   Horikoshi, Tsuguhiro ^a   Goto, Yu Ichi ^b   Hirabayashi, Shinichi ^a  

^a NAGANO CHILDREN'S HOSPITAL   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Brain dysgenesis; Fetal anomalies; Obstetrics; Pyruvate dehydrogenase E1 ; Subunit deficiency; Ultrasound

Indexed keywords

PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE E1ALPHA SUBUNIT;

ADULT; ARTICLE; BRAIN; CASE REPORT; CONGENITAL MALFORMATION; ECHOENCEPHALOGRAPHY; FEMALE; FETUS ECHOGRAPHY; HUMAN; LEIGH DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANCY;

ADULT; BRAIN; ECHOENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT, NEWBORN; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; PREGNANCY; PYRUVATE DEHYDROGENASE (LIPOAMIDE); ULTRASONOGRAPHY, PRENATAL;

EID: 84859502264     PISSN: 00912751     EISSN: 10970096     Source Type: Journal    
DOI: 10.1002/jcu.20864     Document Type: Article

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