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3-Hydroxyisobutyric aciduria

 
National Institutes of Health

Papers overview

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2015
2015
Pearson marrow‐pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic… Expand
2011
2011
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 Istanbul, Turkey, 31 August– 3 September 2010 
2009
2009
valine metabolism, results from tissue accumulation and significant elevation of urinary excretion of 3hydroxyisobutyric acid. To… Expand
2006
2006
3-Hydroxyisobutyric aciduria is a rare entity and affected individuals display a range of clinical manifestations including… Expand
2006
2006
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
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
The chiral metabolites 3-hydroxyisobutyric acid (HIBA) and 3-aminoisobutyric acid (AIBA) are intermediates in the pathways of L… Expand
1992
1992
Monozygotic male twins born to nonconsanguineous parents had dysmorphic facial features, microcephaly, migrational brain disorder… Expand