(Q34486531)

2 August 2017

Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland (English)

1 reference

acute intermittent porphyria

2 August 2017

0 references

1 reference

Mustajoki P

1

1 reference

PubMed ID

3928029

2 August 2017

Desnick RJ

series ordinal

2

1 reference

PubMed ID

3928029

2 August 2017

language of work or name

English

0 references

publication date

1 August 1985

1 reference

2 August 2017

1 reference

2 August 2017

291

1 reference

2 August 2017

6494

1 reference

2 August 2017

505-509

1 reference

Assay for erythrocyte uroporphyrinogen I synthase activity, with porphobilinogen as substrate

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

Biosynthesis of the pigments of life: formation of the macrocycle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

The Finnish population structure A genetic and genealogical study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

Hereditary hepatic porphyrias in Finland

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

Purification and properties of delta-aminolevulinate dehydrase from human erythrocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

Porphobilinogen deaminase: methods and principles of the enzymatic assay.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1416521

The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3928029

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3928029

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BMJ.291.6494.505

0 references

PMCID

1416521

1 reference

2 August 2017

1 reference

PubMed ID

3928029