Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria. (Q33958715)

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8 November 2019

review article

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title

Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria (English)

1 reference

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8 November 2019

author name string

J R Bloomer

series ordinal

1

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8 November 2019

M B Poh-Fitzpatrick

series ordinal

2

1 reference

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8 November 2019

publication date

1 January 2000

1 reference

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Transactions of the American Clinical and Climatological Association

8 November 2019

published in

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8 November 2019

volume

111

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8 November 2019

page(s)

245-56; discussion 256-7

1 reference

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Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation

5 July 2018

1 reference

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Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria

5 July 2018

1 reference

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Review: molecular pathogenesis of hepatic acute porphyrias.

5 July 2018

1 reference

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Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

Molecular defect in human erythropoietic protoporphyria with fatal liver failure

5 July 2018

1 reference

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A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing

5 July 2018

1 reference

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Recessive inheritance of erythropoietic protoporphyria with liver failure

5 July 2018

1 reference

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Deletion of the ferrochelatase gene in a patient with protoporphyria

5 July 2018

1 reference

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Characterization of deficient heme synthase activity in protoporphyria with cultured skin fibroblasts

5 July 2018

1 reference

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A short history of porphyrins and the porphyrias

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

Heme biosynthesis in intermittent acute prophyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity

5 July 2018

1 reference

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`Erythropoietic' protoporphyria and cirrhosis in sisters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

Orientation of ferrochelatase in bovine liver mitochondria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

The functional size of ferrochelatase determined in situ by radiation inactivation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

A molecular defect in human protoporphyria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

Molecular defects in erythropoietic protoporphyria with terminal liver failure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2194363

Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene

29 October 2018

1 reference

12 December 2020

Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria

1 reference

12 December 2020

Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria

1 reference

12 December 2020

A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria

1 reference

12 December 2020

Hepatic disease in erythropoietic protoporphyria

1 reference

12 December 2020

Diminished erythroid ferrochelatase activity in protoporphyria

1 reference

12 December 2020

Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene

1 reference

12 December 2020

Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria

1 reference

12 December 2020

Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene

1 reference

12 December 2020

Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene

1 reference

12 December 2020

Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies

1 reference

12 December 2020

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10881344%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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