A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the sym...
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| Main Authors: | , , , , |
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| Format: | Book |
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SAGE Publishing,
2023-04-01T00:00:00Z.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_c821ffe7fc8249b59485a683f15ef5c8 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Hamed Ghoshouni MD |e author |
| 700 | 1 | 0 | |a Roham Sarmadian MD |e author |
| 700 | 1 | 0 | |a Rana Irilouzadian MD |e author |
| 700 | 1 | 0 | |a Habibe Nejad Biglari MD |e author |
| 700 | 1 | 0 | |a Abolfazl Gilani MD |e author |
| 245 | 0 | 0 | |a A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene |
| 260 | |b SAGE Publishing, |c 2023-04-01T00:00:00Z. | ||
| 500 | |a 2324-7096 | ||
| 500 | |a 10.1177/23247096231168109 | ||
| 520 | |a Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the symptoms of this disease. In addition, a mutation in the COG8 gene , which encodes a subunit of conserved oligomeric Golgi (COG) complex, causes another rare disorder attributed to type IIh of congenital disorder of glycosylation ( CDG ). We described a rare case of CTX disorder associated with a mutation on COG8 gene , which presented by unusual symptoms. | ||
| 546 | |a EN | ||
| 690 | |a Medicine (General) | ||
| 690 | |a R5-920 | ||
| 690 | |a Pathology | ||
| 690 | |a RB1-214 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023) | |
| 787 | 0 | |n https://doi.org/10.1177/23247096231168109 | |
| 787 | 0 | |n https://doaj.org/toc/2324-7096 | |
| 856 | 4 | 1 | |u https://doaj.org/article/c821ffe7fc8249b59485a683f15ef5c8 |z Connect to this object online. |