(Q28214525)

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Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

scientific article (publication date: September 2001)

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Europe PubMed Central

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship (English)

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ChEBI release 2020-05-28

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ChEBI release 2020-05-28

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Brage Storstein Andresen

object named as

Brage S. Andresen

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object named as

Peter Bross

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Thomas Juhl Corydon

object named as

Thomas J. Corydon

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6

object named as

Lars Bolund

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author name string

N Gregersen

1

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B S Andresen

2

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M J Corydon

3

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T J Corydon

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R K Olsen

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L Bolund

6

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P Bross

7

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Niels Gregersen

1

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Morten J. Corydon

3

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Rikke K.J. Olsen

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language of work or name

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publication date

September 2001

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2001

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18

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169-89

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169-189

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3

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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.

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Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death

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Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.

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Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

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Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.

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Inborn errors of mitochondrial fatty acid oxidation

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Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

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Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

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Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.

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Carnitine palmitoyltransferase deficiencies

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Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

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Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

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Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.

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Protein misfolding and degradation in genetic diseases.

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Structural organization of the human short-chain acyl-CoA dehydrogenase gene

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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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1 reference

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1 reference

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1 reference

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7 January 2021

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1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.

1 reference

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7 January 2021

based on heuristic

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A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein

1 reference

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7 January 2021

based on heuristic

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Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Regulated protein degradation in mitochondria

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Purification and properties of carnitine octanoyltransferase and carnitine palmitoyltransferase from rat liver

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the beta-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

A defect in the transport of long-chain fatty acids associated with acute liver failure

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Monogenic traits are not simple: lessons from phenylketonuria

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Regional variations in medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood

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7 January 2021

based on heuristic

inferred from DOI database lookup

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1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

1 reference

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based on heuristic

inferred from DOI database lookup

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1174

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1174.ABS

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

10.1002/HUMU.1174

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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