(Q33681928)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

title

Heterogeneity of familial porphyria cutanea tarda (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference

1 reference

A G Roberts

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

G H Elder

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

R G Newcombe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

R Enriquez de Salamanca

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

J J Munoz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

language of work or name

English

0 references

publication date

1 October 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

20 September 2019

published in

1 reference

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20 September 2019

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

page(s)

669-676

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

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

20 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

Porphyria cutanea tarda, or the uroporphyrinogen decarboxylase deficiency diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

Familial and sporadic porphyria cutanea: two different diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051560

Porphyria Cutanea Tarda in Three Generations of a Single Family

30 October 2018

1 reference

12 December 2020

Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase

1 reference

12 December 2020

[Hereditary and non-hereditary form of chronic hepatic porphyria: different behaviour of uroporphyrinogen decarboxylase in liver and erythrocytes (author's transl)]

1 reference

12 December 2020

Porphyria cutanea tarda in Three Brothers and One Sister

1 reference

12 December 2020

The enzymatic defect in porphyria cutanea tarda

1 reference

12 December 2020

Quantitative and qualitative porphyrin excretion in normal subjects

1 reference

12 December 2020

Measurement of uroporphyrinogen decarboxylase using porphyrinogens prepared by chemical reduction

1 reference

12 December 2020

Different patterns of human porphyria

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.25.10.669

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3225822%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference