Cystic disease of the first rib causing lower-arm (klumpke) type of paralysis

Glycogen storage disease type IIIa: firs

Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient

✍ Minoru Okubo; Fumio Kanda; Asako Horinishi; Keiichi Takahashi; Shiho Okuda; Kazu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 1 views

Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. Here we describe a novel G1