(Q33588061)

28 July 2017

Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism (English)

1 reference

erythropoietic protoporphyria

28 July 2017

1 reference

1 reference

https://api.crossref.org/works/10.1136/JMG.15.2.157

30 August 2023

1 reference

E. W. Naylor

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

17 July 2022

W. H. Murphey

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

17 July 2022

E. I. Domoszlai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

17 July 2022

R. Guthrie

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

17 July 2022

language of work or name

English

0 references

publication date

1 April 1978

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/641953/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/641953/pdf/?tool=EBI

17 July 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

http://jmg.bmjjournals.com/cgi/content/abstract/15/2/157

17 July 2022

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

https://europepmc.org/articles/PMC1013668

17 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

https://europepmc.org/articles/PMC1013668?pdf=render

17 July 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641953

https://syndication.highwire.org/content/doi/10.1136/jmg.15.2.157

17 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.15.2.157

Journal of Medical Genetics

30 August 2023

published in

1 reference

28 July 2017

15

1 reference

28 July 2017

2

1 reference

28 July 2017

157-160

1 reference

Deletion of the short arm of chromosome 18 and trisomy 18 in a pair of siblings with unusual form of porphyria

28 July 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013668

Common polymorphism of Peptidase A. Electrophoretic variants associated with quantitative variation of red cell levels

14 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013668

Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytes

31 October 2018

1 reference

12 December 2020

The FEP (free erythrocyte porphyrins) test: a screening micromethod for lead poisoning

1 reference

12 December 2020

Partial deletion of the long arm of chromosome 18. Individualization of a new morbid state

1 reference

12 December 2020

Tentative assignment of the peptidase-A (Pep-A) gene locus to the (q21-qter) region of chromosome 18 in man

1 reference

12 December 2020

Studies on the quantitative variation of human red cell peptidase A activity

1 reference

12 December 2020

Quantitative studies on the inherited variants of serum alpha-1-antitrypsin

1 reference

12 December 2020

A pericentric inversion, 5p–q+, and additional complex rearrangements in a case of cri-du-chat syndrome

https://api.crossref.org/works/10.1136/JMG.15.2.157

2

1 reference

Autosomal translocation in a mentally retarded male child with 46,XY,t(2q-;13q+) complement. Case report and review

30 August 2023

https://api.crossref.org/works/10.1136/JMG.15.2.157

3

1 reference

Y/autosomal translocations

30 August 2023

https://api.crossref.org/works/10.1136/JMG.15.2.157

5

1 reference

30 August 2023

Identifiers

DOI

10.1136/JMG.15.2.157

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=641953

17 July 2022

1 reference

28 July 2017

1 reference