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3-Hydroxyisobutyric aciduria

 
National Institutes of Health

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2 relations

Broader (2)

Amino Acid Metabolism, Inborn ErrorsHydroxybutyrates

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Biochemical abnormalities in Pearson syndrome
Pearson marrow‐pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic… Expand
2011
2011
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
Abstract3-hydroxyisobutyric aciduria is an organic aciduria with a poorly understood biochemical basis. It has previously been… Expand
2010
2010
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Istanbul, Turkey, 31 August– 3 September 2010 
2009
2009
Neuropathology of 3-Hydroxyisobutyric Aciduria, an Autopsy Case Report
valine metabolism, results from tissue accumulation and significant elevation of urinary excretion of 3hydroxyisobutyric acid. To… Expand
2006
2006
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
3-Hydroxyisobutyric aciduria is a rare entity and affected individuals display a range of clinical manifestations including… Expand
2006
2006
Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria
3-hydroxyisobutyric aciduria (3HiB-uria) is a very rare organic aciduria that involves valine metabolism. We report the case of a… Expand
Review
2001
Review
2001
A severely brain-damaged case of 3-hydroxyisobutyric aciduria
We report a male case of 3-hydroxyisobutyric aciduria (3HiB-uria) with severe brain damage. He had mild asphyxia at birth. He… Expand
2000
2000
Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
The chiral metabolites 3-hydroxyisobutyric acid (HIBA) and 3-aminoisobutyric acid (AIBA) are intermediates in the pathways of L… Expand
1997
1997
3-Hydroxyisobutyric aciduria の臨床的多様性
 
1992
1992
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.
Monozygotic male twins born to nonconsanguineous parents had dysmorphic facial features, microcephaly, migrational brain disorder… Expand
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