(Q67506463)

English

Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria

scientific article published on 01 January 1992

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1331607%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1331607%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

mevalonic aciduria

1 reference

based on heuristic

inferred from title

phosphotransferases (alcohol group acceptor)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1331607

14 September 2022

author name string

G. F. Hoffmann

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1331607

14 September 2022

S. U. Brendel

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1331607

14 September 2022

S. R. Scharfschwerdt

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1331607

14 September 2022

Y. S. Shin

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1331607

14 September 2022

I. M. Speidel

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1331607

14 September 2022

K. M. Gibson

6

1 reference

Europe PubMed Central

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14 September 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1331607

14 September 2022

publication date

1 January 1992

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1331607%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1331607%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

15

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1331607%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1331607%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

738-746

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1331607%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Purification and regulation of mevalonate kinase from rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation of lysosomal enzyme activity with gestational age in chorionic villi

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Activity of Galactose-1-phosphate Uridyltransferase and Galactokinase in Human Fetal Organs

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple assay for galactokinase using deae-cellulose column chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mevalonic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A method for galactose-1-phosphate uridyltransferase assay and the separation of its isozymes by DEAE-cellulose column chromatography.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1331607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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