(Q48223265)

9 February 2018

title

Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria (English)

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.07.001

23 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.07.001

23 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.07.001

23 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.07.001

23 March 2024

author name string

Hiba Risheg

1

1 reference

9 February 2018

Fu-Ping Chen

2

1 reference

9 February 2018

Joseph R. Bloomer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14567969

23 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14567969

23 March 2024

publication date

1 September 2003

1 reference

9 February 2018

full work available at URL

https://api.elsevier.com/content/article/PII:S1096719203001458?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.07.001

https://api.elsevier.com/content/article/PII:S1096719203001458?httpAccept=text/plain

23 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.07.001

Molecular Genetics and Metabolism

23 March 2024

published in

1 reference

9 February 2018

volume

80

1 reference

9 February 2018

issue

1-2

1 reference

9 February 2018

page(s)

196-206

1 reference

9 February 2018

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Orientation of ferrochelatase in bovine liver mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Erythropoietic Protoporphyria: Lipid Peroxidation and Red Cell Membrane Damage Associated with Photohemolysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Hepatobiliary implications and complications in protoporphyria, a 20-year study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Hepatic disease in erythropoietic protoporphyria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Erythropoietic protoporphyria (EPP) at 40. Where are we now?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Genetic aspects of erythropoietic protoporphyria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

A “null allele” mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Changes in protoporphyrin distribution dynamics during liver failure and recovery in a patient with protoporphyria and Epstein-Barr viral hepatitis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Iron therapy for hepatic dysfunction in erythropoietic protoporphyria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Study of factors causing excess protoporphyrin accumulation in cultured skin fibroblasts from patients with protoporphyria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.07.001

Diminished erythroid ferrochelatase activity in protoporphyria

7 January 2021

3

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.07.001

Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease

23 March 2024

19

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2003.07.001

23 March 2024

Identifiers

1 reference

9 February 2018

1 reference

9 February 2018