(Q28118865)

English

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

scientific article published on July 1, 1992

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scholarly article

1 reference

PubMed publication ID

4 January 2017

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria (English)

1 reference

PubMed publication ID

4 January 2017

hepatoerythropoietic porphyria

1 reference

based on heuristic

inferred from title

chromosomal deletion syndrome

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634232

18 October 2022

1 reference

10.1007/BF00219182

https://api.crossref.org/works/10.1007/BF00219182

18 October 2022

Felix W M De Rooij

3

object named as

F. de Rooij

author given names

F

author last names

de Rooij

1 reference

PubMed publication ID

4 January 2017

author name string

H. de Verneuil

1

author given names

H

author last names

de Verneuil

1 reference

PubMed publication ID

4 January 2017

F. Bourgeois

2

author given names

F

author last names

Bourgeois

1 reference

PubMed publication ID

4 January 2017

P. D. Siersema

4

author given names

P D

author last names

Siersema

1 reference

PubMed publication ID

4 January 2017

J. H. Wilson

5

author given names

J H

author last names

Wilson

1 reference

PubMed publication ID

4 January 2017

B. Grandchamp

6

author given names

B

author last names

Grandchamp

1 reference

PubMed publication ID

4 January 2017

Y. Nordmann

7

author given names

Y

author last names

Nordmann

1 reference

PubMed publication ID

4 January 2017

language of work or name

0 references

publication date

1 July 1992

1 reference

PubMed publication ID

4 January 2017

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00219182.pdf

Portable Document Format

1 reference

10.1007/BF00219182

https://api.crossref.org/works/10.1007/BF00219182

18 October 2022

http://link.springer.com/article/10.1007/BF00219182/fulltext.html

1 reference

10.1007/BF00219182

https://api.crossref.org/works/10.1007/BF00219182

18 October 2022

http://link.springer.com/content/pdf/10.1007/BF00219182

1 reference

10.1007/BF00219182

https://api.crossref.org/works/10.1007/BF00219182

18 October 2022

1 reference

PubMed publication ID

4 January 2017

89

1 reference

PubMed publication ID

4 January 2017

5

1 reference

PubMed publication ID

4 January 2017

548–552

1 reference

PubMed publication ID

4 January 2017

Purification and characterization of bovine hepatic uroporphyrinogen decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uroporphyrinogen decarboxylase. Purification, properties, and inhibition by polychlorinated biphenyl isomers

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Some kinetic properties of human red cell uroporphyrinogen decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial and sporadic porphyria cutanea: two different diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of lysine at the active site of human 5-aminolaevulinate dehydratase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a new mutation responsible for hepatoerythropoietic porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the gene for human uroporphyrinogen decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of arginyl residues in porphyrin binding to ferrochelatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rat uroporphyrinogen decarboxylase cDNA: nucleotide sequence and comparison to human uroporphyrinogen decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and properties of uroporphyrinogen III synthase (co-synthetase) from Euglena gracilis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of the Synechococcus sp. PCC7942 branching enzyme gene (glgB): expression in Bacillus subtilis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that pyridoxal phosphate modification of lysine residues (Lys-55 and Lys-59) causes inactivation of hydroxymethylbilane synthase (porphobilinogen deaminase).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00219182

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0 references

PubMed publication ID

1 reference

PubMed publication ID

4 January 2017

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