## Abstract ## Background Gaucher disease is the most common of the lysosomal storage disorders. The primary manifestation is the accumulation of glucosylceramide (GL‐1) in the macrophages of liver and spleen (Gaucher cells), due to a deficiency in the lysosomal hydrolase glucocerebrosidase (GC).
✦ LIBER ✦
Sulfatide storage in visceral organs of arylsulfatase A-deficient mice
✍ Scribed by I. Schott; D. Hartmann; V. Gieselmann; R. Lüllmann-Rauch
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 195 KB
- Volume
- 439
- Category
- Article
- ISSN
- 1432-2307
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
AAV8-mediated expression of glucocerebro
✍
Kerry Anne McEachern; Jennifer B. Nietupski; Wei-Lien Chuang; Donna Armentano; J
📂
Article
📅
2006
🏛
John Wiley and Sons
🌐
English
⚖ 422 KB
Preimplantation diagnosis of a lysosomal
✍
A. Butler; S. C. Henderson; R. E. Gordon; A. Dagan; S. Gatt; E. H. Schuchman
📂
Article
📅
2005
🏛
Springer
🌐
English
⚖ 326 KB
Partial correction of the α-galactosidas
✍
Malgorzata Przybylska; I-Huan Wu; Hongmei Zhao; Robin J. Ziegler; Jennifer D. To
📂
Article
📅
2004
🏛
John Wiley and Sons
🌐
English
⚖ 163 KB
## Abstract ## Background Fabry disease is a recessive, X‐linked disorder caused by a deficiency of the lysosomal enzyme α‐galactosidase A, leading to an accumulation of the glycosphingolipid globotriaosylceramide (GL‐3) in most tissues of the body. The goal of this study was to determine if syste
Genetic deficiency of carnitine/organic
✍
Sayaka Kato; Yukio Kato; Tadakatsu Nakamura; Tomoko Sugiura; Yoshiyuki Kubo; Yos
📂
Article
📅
2009
🏛
John Wiley and Sons
🌐
English
⚖ 170 KB