POLGI Mutations in Infantile Hepatocerebral Syndromes

• Yazar: J Gordon Millichap (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Pediatric Neurology Briefs Publishers, 2005-04-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...