Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele (Q42282561)

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scientific article published on January 1994

Language	Label	Description	Also known as
English	Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele	scientific article published on January 1994

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

medium chain acyl-CoA dehydrogenase deficiency

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1 reference

based on heuristic

inferred from title

Stanislas Lyonnet

3

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Europe PubMed Central

PubMed publication ID

19 October 2017

Brage Storstein Andresen

7

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Europe PubMed Central

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19 October 2017

author name string

N Gregersen

1

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Europe PubMed Central

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19 October 2017

V Winter

2

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19 October 2017

J M Saudubray

4

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Europe PubMed Central

PubMed publication ID

19 October 2017

U Wendel

5

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Europe PubMed Central

PubMed publication ID

19 October 2017

T G Jensen

6

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Europe PubMed Central

PubMed publication ID

19 October 2017

S Kølvraa

8

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19 October 2017

W Lehnert

9

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Europe PubMed Central

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19 October 2017

L Bolund

10

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19 October 2017

publication date

1 January 1994

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Europe PubMed Central

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19 October 2017

Journal of Inherited Metabolic Disease

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Europe PubMed Central

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19 October 2017

17

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Europe PubMed Central

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19 October 2017

2

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19 October 2017

169-184

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Europe PubMed Central

PubMed publication ID

19 October 2017

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

1 reference

https://api.crossref.org/works/10.1007%2FBF00711614

21 January 2018

Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells

1 reference

https://api.crossref.org/works/10.1007%2FBF00711614

21 January 2018

DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of the G985 MCAD mutation in the general population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of four rat liver mitochondrial acyl-CoA dehydrogenases: in vitro synthesis, import into mitochondria, and processing of their precursors in a cell-free system and in cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

beta zero thalassemia in Sardinia is caused by a nonsense mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in medium chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

beta 0 thalassemia, a nonsense mutation in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta-Thalassaemia types in southern Sardinia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-acylglycines: Gas chromatographic mass spectrometric identification and determination in urine by selected ion monitoring

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00711614

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 October 2017

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