Nalaganje...

Erythropoietic Protoporphyria and X-Linked Protoporphyria: Pathophysiology, Genetics, Clinical Manifestations, and Management

Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway. EPP results from the partial deficiency of ferrochelatase, and XLP results from gain-of-function mutations in erythroid specific...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Genet Metab
Glavni avtor: Balwani, Manisha
Format: Artigo
Jezik:Inglês
Izdano: 2019
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6656624/
https://ncbi.nlm.nih.gov/pubmed/30704898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.01.020
Oznake: Označite
Brez oznak, prvi označite!