| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1035709297 |
| P356 | DOI | 10.1007/S10545-011-9381-X |
| P698 | PubMed publication ID | 21863277 |
| P2093 | author name string | David Scott | |
| C Geoffrey Woods | |||
| Julian P H Shield | |||
| Jörn Oliver Sass | |||
| Laurie D Smith | |||
| Andrea M Atherton | |||
| Uttam Garg | |||
| Melanie Walter | |||
| P2860 | cites work | Protein measurement with the Folin phenol reagent | Q20900776 |
| Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria | Q24304109 | ||
| Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria | Q28320742 | ||
| Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency | Q28613575 | ||
| MutationTaster evaluates disease-causing potential of sequence alterations | Q29615749 | ||
| Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease | Q34022383 | ||
| 3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family | Q34083564 | ||
| Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts | Q34166518 | ||
| 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 | Q34195960 | ||
| A severely brain-damaged case of 3-hydroxyisobutyric aciduria | Q34263898 | ||
| Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level | Q34439909 | ||
| Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway | Q35644084 | ||
| Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby | Q42257575 | ||
| 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation? | Q43075028 | ||
| 2005 Annual Report of the American Association of Poison Control Centers' national poisoning and exposure database | Q45185057 | ||
| 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism | Q46049286 | ||
| Neuropathology of 3-hydroxyisobutyric aciduria, an autopsy case report. | Q48495729 | ||
| 3-hydroxyisobutyric aciduria with a mild clinical course | Q71755026 | ||
| Secondary inhibition of multiple NAD‐requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect | Q71872949 | ||
| Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β‐alanine,l‐valine andl‐alloisoleucine metabolism? | Q71872955 | ||
| 3-Hydroxyisobutyric aciduria in two brothers | Q74502569 | ||
| P433 | issue | 3 | |
| P304 | page(s) | 437-442 | |
| P577 | publication date | 2011-08-24 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase | |
| P478 | volume | 35 |
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| Q90165438 | Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case |
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| Q21202847 | Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria |
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