(Q51922198)

17 April 2018

title

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. (English)

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17 April 2018

main subject

isobutyryl-coenzyme A

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ChEBI release 2020-05-28

4

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17 April 2018

Can Ficicioglu

10

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17 April 2018

author name string

Devin Oglesbee

1

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17 April 2018

Miao He

2

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17 April 2018

Nilanjana Majumder

3

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17 April 2018

Ayesha Ahmad

5

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17 April 2018

Brad Angle

6

1 reference

17 April 2018

Barbara Burton

7

1 reference

17 April 2018

Joel Charrow

8

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17 April 2018

Regina Ensenauer

9

1 reference

17 April 2018

Laura Davis Keppen

11

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17 April 2018

Deborah Marsden

12

1 reference

17 April 2018

Silvia Tortorelli

13

1 reference

17 April 2018

Si Houn Hahn

14

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17 April 2018

Dietrich Matern

15

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17 April 2018

language of work or name

English

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publication date

1 February 2007

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17 April 2018

published in

Genetics in Medicine

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17 April 2018

volume

9

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17 April 2018

page(s)

108-116

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17 April 2018

issue

2

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17 April 2018

https://scigraph.springernature.com/pub.10.1097/gim.0b013e31802f78d6

exact match

0 references

cites work

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802F78D6

10.1097/GIM.0B013E31802F78D6

21 January 2018

Identifiers

DOI

1 reference

17 April 2018

Dimensions Publication ID

0 references

1 reference

17 April 2018