(Q44124840)

30 November 2017

title

Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families (English)

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30 November 2017

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Lin SK

1

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Hsu SG

2

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Ho ES

3

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Tsai CR

4

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Hseih YT

5

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Lo FC

6

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Lai HY

7

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Chen MH

8

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30 November 2017

publication date

1 August 2002

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30 November 2017

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30 November 2017

volume

22

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issue

8

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30 November 2017

page(s)

725-729

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Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds

30 November 2017

cites work

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Diagnosis and management of glutaric aciduria type I.

21 January 2018

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Glutaric aciduria type I: ultrasonographic demonstration of early signs

21 January 2018

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Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations

21 January 2018

1 reference

Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy

21 January 2018

1 reference

Macrocephaly: an important indication for organic acid analysis

21 January 2018

1 reference

Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene

21 January 2018

1 reference

Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.

21 January 2018

1 reference

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

21 January 2018

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Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PD.392

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30 November 2017

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