Novel <italic>MTTP</italic> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-month-old girl was admitted to hospital because of f...
Furkejuvvon:
| Váldodahkkit: | , , , , , , |
|---|---|
| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
Pediatric Endocrinology and Diabetes Society
2020-12-01
|
| Ráidu: | JCRPE |
| Fáttát: | |
| Liŋkkat: |
http://www.jcrpe.org/archives/archive-detail/article-preview/novel-imttp-i-gene-mutation-in-a-case-of-abetalipo/34570
|
| Fáddágilkorat: |
Eai fáddágilkorat, Lasit vuosttaš fáddágilkora!
|