(Q34389917)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

5

1 reference

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10 December 2019

author name string

Hinson DD

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Ross RM

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Krisans S

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Shaw JL

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Rolland MO

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Divry P

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Mancini J

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Hoffmann GF

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Gibson KM

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 August 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

327-335

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Identification of catalytic residues in human mevalonate kinase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Identification and functional characterization of an active-site lysine in mevalonate kinase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377931

Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency

6 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10417275

12 December 2020

inferred from PubMed ID database lookup

Late-onset holocarboxylase synthetase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10417275

12 December 2020

inferred from PubMed ID database lookup

Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10417275

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/302489

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

release_6u6uzbjqf5cqfeqbenzubigpeq

10 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6u6uzbjqf5cqfeqbenzubigpeq

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417275%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

PubMed publication ID

10417275

1 reference