Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism (Q74318182)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

K M Gibson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M Ugarte

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

T Fukao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

G A Mitchell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 January 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

published in

Methods in Enzymology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

324

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

432-453

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Prenatal diagnosis in a family with mitochondrial acetoacetyl-coenzyme A thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Assay of 3-methylglutaconyl-CoA hydratase

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Assay of 3-hydroxy-3-methylglutaryl-CoA lyase

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Characterization of the hydroxymethylglutaryl-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Valine is a precursor of propionyl-CoA

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β‐alanine,l‐valine andl‐alloisoleucine metabolism?

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2800%2924252-3

7 January 2021

10.1016/S0076-6879(00)24252-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10989451%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference