Farber disease: clinical presentation, pathogenesis and a new approach to treatment

• Asıl Yazarlar: Roth Johannes (Yazar), Zander Axel (Yazar), Fehse Natalja (Yazar), Frosch Michael (Yazar), Ehlert Karoline (Yazar), Vormoor Josef (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2007-06-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes. Children with significant neurological involvement usually die ea...