(Q45124859)

9 December 2017

title

Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants (English)

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Isobutyryl-coenzyme A dehydrogenase deficiency

9 December 2017

main subject

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J O Sass

1

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9 December 2017

S Sander

series ordinal

2

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9 December 2017

J Zschocke

series ordinal

3

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9 December 2017

publication date

1 January 2004

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Journal of Inherited Metabolic Disease

9 December 2017

published in

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9 December 2017

volume

27

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9 December 2017

issue

6

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9 December 2017

page(s)

741-745

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https://scigraph.springernature.com/pub.10.1023/b:boli.0000045798.12425.1b

9 December 2017

exact match

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cites work

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

1 reference

12 December 2020

Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

1 reference

12 December 2020

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

1 reference

12 December 2020

Isovaleric acidemia: a new genetic defect of leucine metabolism

1 reference

12 December 2020

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

1 reference

12 December 2020

10.1023/B:BOLI.0000045798.12425.1B

Identifiers

DOI

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Dimensions Publication ID

9 December 2017

1039894058

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