2017
DOI: 10.1007/8904_2017_20
|View full text |Cite
|
Sign up to set email alerts
|

Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria

Abstract: Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another muta… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

0
0
0

Year Published

2020
2020
2020
2020

Publication Types

Select...
1

Relationship

0
1

Authors

Journals

citations
Cited by 1 publication
references
References 16 publications
0
0
0
Order By: Relevance