Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant (Q71059220)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

title

Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

congenital erythropoietic porphyria

15 October 2019

main subject

1 reference

inferred from title

Erythropoietic porphyria

1 reference

J L Huang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

E Zaider

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

P Roth

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

O Garcia

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

S Pollack

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

M B Poh-Fitzpatrick

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

language of work or name

English

0 references

publication date

1 May 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

Journal of the American Academy of Dermatology

15 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

issue

5 Pt 2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

page(s)

924-927

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

Congenital erythropoietic porphyria

15 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Rates of plasma porphyrin disappearance in fluorescent vs. red incandescent light exposure

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

The use of thin layer chromatography in the separation of free porphyrins and porphyrin methyl esters

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

High-performance liquid chromatography of uroporphyrin and coproporphyrin isomers

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Accurate and specific HPLC assay of coproporphyrinogen III oxidase activity in human peripheral leucocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease)

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

Urinary porphyrin excretion in normal children and adults

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2896%2990081-X

7 January 2021

10.1016/S0190-9622(96)90081-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8621830%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference