Congenital lactic acidosis

A form of lactic acidemia with congenital onset. [HPO:probinson]
National Institutes of Health

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2013
2013
We followed 8 patients (4 males) with biochemically and/or molecular genetically proven deficiencies of the E1α subunit of the… (More)
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Highly Cited
2008
Highly Cited
2008
OBJECTIVE The purpose of this research was to report results on long-term administration of dichloroacetate in 36 children with… (More)
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2007
2007
BACKGROUND Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase… (More)
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Highly Cited
2006
Highly Cited
2006
OBJECTIVE Open-label studies indicate that oral dichloroacetate (DCA) may be effective in treating patients with congenital… (More)
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2002
2002
Congenital lactic acidoses (CLAs) constitute a group of rare inborn errors of mitochondrial metabolism in which cellular energy… (More)
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1997
1997
The term congenital lactic acidosis (CLA) refers to a group of inborn errors of mitochondrial metabolism variably characterised… (More)
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1992
1992
We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with… (More)
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1987
1987
For use in screening for disorders of pyruvate metabolism in cultured skin fibroblasts, we developed a sensitive assay method for… (More)
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1981
1981
Two cases of congenital lactic acidosis associated with pyruvate carboxylase deficiency are described. One 2-mo-old infant had a… (More)
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1976
1976
The authors report 2 familial cases of neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in the liver. In… (More)
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