✦ LIBER ✦

Hyperferritinemia and iron overload in type 1 Gaucher disease

✍ Scribed by Philip Stein; Hannah Yu; Dhanpat Jain; Pramod K. Mistry

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 173 KB
Volume: 85
Category: Article
ISSN: 0361-8609
DOI: 10.1002/ajh.21721

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Life expectancy in Gaucher disease type

Life expectancy in Gaucher disease type 1

✍ Neal J. Weinreb; Patrick Deegan; Katherine A. Kacena; Pramod Mistry; Gregory M. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 1 views

Iron overload in chinese patients with h

Iron overload in chinese patients with hemoglobin H disease

✍ Dr. Hui-Chi Hsu; Chung-King Lin; Shyh-Haw Tsay; Elizabeth Tse; Chao-Hung Ho; Mo- 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 333 KB 👁 2 views

Glucocerebrosidase mutations among Afric

Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease

✍ Park, J.K. ;Koprivica, V. ;Andrews, D.Q. ;Madike, V. ;Tayebi, N. ;Stone, D.L. ;S 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 78 KB 👁 1 views

Novel insertion mutation in a non-Jewish

Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient

✍ Choy, Francis Y. M.; Humphries, M. Lisa; Ferreira, Patrick 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 1 views

Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).

A novel mutation (V191G) in a German-Bri

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient

✍ Francis Y. M. Choy; M. Lisa Humphries; Yoav Ben-Yoseph 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 1 views

Gaucher disease results from mutations in the glucocerebrosidase gene (GBA/GeneBank J03059) located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel m

Glucocerebrosidase gene mutations in pat

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

✍ Deborah L. Stone; Nahid Tayebi; Eduard Orvisky; Barbara Stubblefield; Victor Mad 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB 👁 1 views

## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2