(Q28253824)

1

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Regina Ensenauer

2

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Wulf Röschinger

3

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Horst Reich

4

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Ulrike Steuerwald

5

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Oliver Schirrmacher

6

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Katharina Engel

7

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Johannes Häberle

8

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Brage Storstein Andresen

9

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André Mégarbané

10

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Willy Lehnert

11

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Johannes Zschocke

Molecular Genetics and Metabolism

12

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language of work or name

English

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publication date

January 2008

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published in

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volume

93

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issue

1

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page(s)

30-5

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cites work

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

1 reference

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

7 January 2021

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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 [...]

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.002

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

7 January 2021

1 reference

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Long-term results of selective screening for inborn errors of metabolism

7 January 2021

1 reference

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Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

7 January 2021

1 reference

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Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.002

The enzymatic basis for the metabolism and inhibitory effects of valproic acid: dehydrogenation of valproyl-CoA by 2-methyl-branched-chain acyl-CoA dehydrogenase

7 January 2021

1 reference

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