✦ LIBER ✦

Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b

✍ Scribed by D. Melis; R. Della Casa; R. Parini; M. Rigoldi; C. Cacciapuoti; P. Marcolongo; A. Benedetti; V. Gaudieri; G. Andria; G. Parenti

Publisher: Springer
Year: 2008
Tongue: English
Weight: 140 KB
Volume: 168
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-008-0889-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation profile of the GAA gene in 40 I

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

✍ A.L.E. Montalvo; B. Bembi; M. Donnarumma; M. Filocamo; G. Parenti; M. Rossi; L. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 1 views

Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali

The identification of five novel mutatio

The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II

✍ Clare E. Beesley; Anne H. Child; Magdi H. Yacoub 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 2 views

The autosomal recessive disorder Glycogen Storage Disease Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid -glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the -glucosidase gene from UK patients with GSDII.

Identification of four novel mutations i

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II

✍ Pittis, Maria Gabriela ;Montalvo, Anna Lisa E. ;Miocic, Snjezana ;Martini, Crist 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 2 views

Characterization of the mutations in the

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

✍ R. Parvari; S. Moses; E. Hershkovitz; R. Carmi; N. Bashan 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 620 KB