(Q35202352)

7 August 2017

title

Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts (English)

1 reference

7 August 2017

R. A. Gravel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A195466

28 May 2022

K. F. Lam

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A195466

28 May 2022

K. J. Scully

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A195466

28 May 2022

Y. Hsia

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A195466

28 May 2022

language of work or name

English

0 references

publication date

1 July 1977

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/195466/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A195466

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/195466/pdf/?tool=EBI

28 May 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%3A195466

https://europepmc.org/articles/PMC1685391

28 May 2022

https://europepmc.org/articles/PMC1685391?pdf=render

0 references

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%3A195466

American Journal of Human Genetics

28 December 2022

published in

1 reference

7 August 2017

volume

29

1 reference

7 August 2017

issue

4

1 reference

7 August 2017

page(s)

378-388

1 reference

Protein measurement with the Folin phenol reagent

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Plaque formation and isolation of pure lines with poliomyelitis viruses

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Propionic acidemia in patients with ketotic hyperglycinemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Inherited propionyl-CoA carboxylase deficiency in “ketotic hyperglycinemia”

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Some properties of propionyl CoA carboxylase partially purified from human liver

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Detection of inborn errors of metabolism. III. Defects in urea cycle metabolism.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Biotin-responsive propionicacidaemia.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Localisation of enzymic defect in propionicacidaemia.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Five complementation groups in xeroderma pigmentosum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Hyperglycinemia and propionyl CoA carboxylase deficiency and episodic severe illness without consistent ketosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Sphingomyelinases in Human Tissues. III. Expression of Niemann-Pick Disease in Cultured Skin Fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Sphingomyelinases in Human Tissues. II. Absence of a Specific Enzyme from Liver and Brain of Niemann-Pick Disease, Type C

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685391

Prenatal diagnosis and family studies in a case of propionicacidaemia

13 July 2018

1 reference

12 December 2020

A form of late propionic acidemia

1 reference

12 December 2020

Defective propionate carboxylation in ketotic hyperglycinaemia

1 reference

12 December 2020

Complementation Analysis of Maple Syrup Urine Disease in Heterokaryons derived from Cultured Human Fibroblasts

1 reference

12 December 2020

Two types of ribosome in mouse-hamster hybrid cells

1 reference

12 December 2020

Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts

1 reference

12 December 2020

Identifiers

PMC publication ID

1685391

1 reference

7 August 2017

1 reference