POLGI Mutations in Infantile Hepatocerebral Syndromes

Nine patients, 2 sibling pairs and 5 singleton cases, with POLGI mutations associated with infantile fatal encephalopathy and hepatopathy, 8 having typical Alpers' syndrome (Alpers' hepatopathic poliodystrophy) and one a severe floppy infant syndrome with hepatic failure, are reported from...

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Yazar: J Gordon Millichap (Yazar)
Materyal Türü: Kitap
Baskı/Yayın Bilgisi: Pediatric Neurology Briefs Publishers, 2005-04-01T00:00:00Z.
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