Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening (Q28285245)

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English	Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening	scientific article

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5 February 2020

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening (English)

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5 February 2020

Al-Walid Mohsen

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5 February 2020

Marianne Rohrbach

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5 February 2020

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Jaffar Alfardan

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5 February 2020

Sara Copeland

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5 February 2020

Jay Ellison

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5 February 2020

Laura Keppen-Davis

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5 February 2020

Berkley R Powell

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5 February 2020

Jane Gillis

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5 February 2020

Dietrich Matern

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5 February 2020

Jeffrey Kant

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5 February 2020

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23 May 2010

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5 February 2020

Molecular Genetics and Metabolism

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5 February 2020

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5 February 2020

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5 February 2020

333-338

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5 February 2020

Short-chain acyl-coenzyme A dehydrogenase deficiency

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20 March 2017

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism

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20 March 2017

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

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20 March 2017

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency

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20 March 2017

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

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20 March 2017

ETHE1 mutations are specific to ethylmalonic encephalopathy

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20 March 2017

Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases

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20 March 2017

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

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20 March 2017

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and [...]

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20 March 2017

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism

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20 March 2017

Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,

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Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

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20 March 2017

A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase

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20 March 2017

Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family

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20 March 2017

Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase

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20 March 2017

Isovaleric acidemia: a new genetic defect of leucine metabolism

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20 March 2017

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia

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20 March 2017

Cloning of a cDNA for short/branched chain acyl-Coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity

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20 March 2017

Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme

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20 March 2017

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase

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20 March 2017

Barth syndrome, a human disorder of cardiolipin metabolism

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29 September 2017

Inborn errors of isoleucine degradation: a review

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29 September 2017

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

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29 September 2017

Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids

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29 September 2017

Recent developments and new applications of tandem mass spectrometry in newborn screening

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29 September 2017

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

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29 September 2017

Diagnosis and management of defects of mitochondrial beta-oxidation

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29 September 2017

Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family

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29 September 2017

Defects of mitochondrial beta-oxidation: a growing group of disorders.

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29 September 2017

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

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29 September 2017

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29 September 2017

Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

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2 June 2018

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

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2 June 2018

Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.

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2 June 2018

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27 November 2018

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation

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27 November 2018

Mammalian branched-chain acyl-CoA dehydrogenases: molecular cloning and characterization of recombinant enzymes

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7 January 2021

Diagnosis of isovaleric acidemia in cultured fibroblasts

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7 January 2021

Identification of the catalytic residue of human short/branched chain acyl-CoA dehydrogenase by in vitro mutagenesis

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7 January 2021

2-Ethylhydracrylic acid: a newly described urinary organic acid

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7 January 2021

2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and characterization of 2-methyl-branched chain acyl coenzyme A dehydrogenase, an enzyme involved in the isoleucine and valine metabolism, from rat liver mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20547083

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.YMGME.2010.04.014

1 reference

Europe PubMed Central

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5 February 2020

1 reference

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5 February 2020

1 reference

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5 February 2020

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