Congenital lactic acidosis

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

Papers overview

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2013
2013
Long-term safety of dichloroacetate in congenital lactic acidosis.
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
Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate.
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
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
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
Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.
OBJECTIVE Open-label studies indicate that oral dichloroacetate (DCA) may be effective in treating patients with congenital… (More)
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2002
2002
Renal manifestations of congenital lactic acidosis.
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
Treatment of congenital lactic acidosis with dichloroacetate.
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
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
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
Congenital lactic acidosis.
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
Congenital lactic acidosis associated with pyruvate carboxylase deficiency.
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
Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.
The authors report 2 familial cases of neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in the liver. In… (More)
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