3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase (Q34210330)

31 July 2017

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase (English)

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31 July 2017

Jörn Oliver Sass

1

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31 July 2017

Melanie Walter

2

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31 July 2017

Julian P H Shield

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31 July 2017

Andrea M Atherton

4

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31 July 2017

Uttam Garg

5

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31 July 2017

David Scott

6

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31 July 2017

C Geoffrey Woods

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31 July 2017

Laurie D Smith

8

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31 July 2017

24 August 2011

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Journal of Inherited Metabolic Disease

31 July 2017

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31 July 2017

35

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31 July 2017

3

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31 July 2017

437-442

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9381-x

31 July 2017

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cites work

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

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Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

21 January 2018

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21 January 2018

12 December 2020

Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria

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https://api.crossref.org/works/10.1007%2FS10545-011-9381-X

Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9381-X

3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism

21 January 2018

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2005 Annual Report of the American Association of Poison Control Centers' national poisoning and exposure database

21 January 2018

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Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9381-X

A severely brain-damaged case of 3-hydroxyisobutyric aciduria

21 January 2018

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MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

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3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family

21 January 2018

1 reference

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8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

21 January 2018

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Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease

21 January 2018

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Neuropathology of 3-hydroxyisobutyric aciduria, an autopsy case report.

21 January 2018

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12 December 2020

3-Hydroxyisobutyric aciduria in two brothers

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12 December 2020

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

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12 December 2020

Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

1 reference

12 December 2020

Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts

1 reference

12 December 2020

3-hydroxyisobutyric aciduria with a mild clinical course

1 reference

12 December 2020

Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect

1 reference

12 December 2020

Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

10.1007/S10545-011-9381-X

Identifiers

DOI

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Dimensions Publication ID

31 July 2017

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