Leber congenital amaurosis (LCA) is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have s
✦ LIBER ✦
Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations
✍ Scribed by Kholoud Al-Khayer; Stephanie Hagstrom; Gayle Pauer; Hernando Zegarra; Jonathan Sears; Elias I. Traboulsi; MD
- Book ID
- 117019409
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 221 KB
- Volume
- 137
- Category
- Article
- ISSN
- 0002-9394
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Four novel mutations in the RPE65 gene i
✍
Marcia J. Simovich; Beverly Miller; Hany Ezzeldin; Bryan T. Kirkland; Genevieve
📂
Article
📅
2001
🏛
John Wiley and Sons
🌐
English
⚖ 23 KB
Screening of a Large Cohort of Leber Con
✍
Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L. Ingeborg
📂
Article
📅
2013
🏛
John Wiley and Sons
🌐
English
⚖ 75 KB
A 30-year Follow-Up of a Neuronal Ceroid
✍
Laura Åberg; Leena Lauronen; Janne Hämäläinen; Sara E. Mole; Taina Autti
📂
Article
📅
2009
🏛
Elsevier Science
🌐
English
⚖ 143 KB
Eighteen-year follow-up of a patient wit
✍
Alojz Gregorič; Gwenda M. Rabelink; Nadja Kokalj Vokač; Nataša Marčun Varda; Bor
📂
Article
📅
2005
🏛
Springer
🌐
English
⚖ 123 KB
PMH65 ASSOCIATION BETWEEN EARLY ANTIDEPR
✍
M Roca; A Valladares; E Alvarez; E Baca; L Caballero; A Ciudad; P García-Polavie
📂
Article
📅
2009
🏛
John Wiley and Sons
🌐
English
⚖ 81 KB
A novel mutation of the GAA gene in a Fi
✍
Mari P. Korpela; Anders Paetau; Mervi I. Löfberg; Marjut H. Timonen; Antti E. La
📂
Article
📅
2009
🏛
John Wiley and Sons
🌐
English
⚖ 139 KB
## Abstract Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α‐glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late‐onset form of Pompe disease. Molecular genetic analys