(Q35819677)

10 August 2017

Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts (English)

1 reference

10 August 2017

M. F. Wilkemeyer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671869

25 October 2022

A. M. Crane

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671869

25 October 2022

F. D. Ledley

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671869

25 October 2022

language of work or name

English

0 references

publication date

1 March 1991

1 reference

PMC publication ID

329882

full work available at URL

10 August 2017

https://europepmc.org/articles/PMC329882

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671869

https://europepmc.org/articles/PMC329882?pdf=render

25 October 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%3A1671869

Journal of Clinical Investigation

25 October 2022

published in

1 reference

10 August 2017

87

1 reference

10 August 2017

3

1 reference

10 August 2017

915-918

1 reference

The Natural History of the Inherited Methylmalonic Acidemias

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Somatic gene therapy for human disease: background and prospects. Part II.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Progress toward human gene therapy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Construction of plasmids that express E. coli beta-galactosidase in mammalian cells.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Primary structure and activity of mouse methylmalonyl-CoA mutase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329882

L-methylmalonyl-CoA mutase from human placenta

27 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1671869

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Electroporation of eukaryotes and prokaryotes: a general approach to the introduction of macromolecules into cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1671869

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1671869

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI115098

1 reference

10 August 2017

1 reference

PMC publication ID

329882

10 August 2017

1 reference

PMC publication ID

329882