Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders von Fraldi, Alessandro, Annunziata, Fabio, Lombardi, Alessia, Kaiser, Hermann‐Josef, Luis Medina, Diego, Spampanato, Carmine, Olind Fedele, Anthony, Polishchuk, Roman, Sorrentino, Nicolina Cristina, Simons, Kai, Ballabio, Andrea

Volltext

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders von Fraldi, Alessandro, Annunziata, Fabio, Lombardi, Alessia, Kaiser, Hermann-Josef, Medina, Diego Luis, Spampanato, Carmine, Fedele, Anthony Olind, Polishchuk, Roman, Sorrentino, Nicolina Cristina, Simons, Kai, Ballabio, Andrea

Volltext

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online von Fedele, Anthony Olind, Filocamo, Mirella, Di Rocco, Maja, Sersale, Giovanna, Lübke, Torben, di Natale, Paola, Cosma, Maria Pia, Ballabio, Andrea

Volltext

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome) von Fedele, Anthony Olind, Filocamo, Mirella, Di Rocco, Maja, Sersale, Giovanna, Lübke, Torben, di Natale, Paola, Cosma, Maria Pia, Ballabio, Andrea

Volltext