Congenital Erythropoietic Porphyria: Mild and Severe Form in Two Brothers
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inherited metabolic disorder caused due to deficiency of the enzyme uroporphyrinogen III cosynthase, resulting in large amounts of type I isomers, which massively accumulate in erythroid cells and then leak into plasma. CEP clinical...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2024-06-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |