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Congenital lactic acidosis

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

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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… Expand
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Highly Cited
2007
Highly Cited
2007
BACKGROUND Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase… Expand
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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… Expand
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Highly Cited
1997
Highly Cited
1997
The term congenital lactic acidosis (CLA) refers to a group of inborn errors of mitochondrial metabolism variably characterised… Expand
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Review
1997
Review
1997
We have identified and sequenced a cDNA that encodes an apparent human orthologue of a yeast protein-X component (ScPDX1) of… Expand
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Highly Cited
1992
Highly Cited
1992
We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with… Expand
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Highly Cited
1984
Highly Cited
1984
We report the case of an infant with hypoglycemia, progressive lactic acidosis, an increased serum lactate/pyruvate ratio, and… Expand
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Highly Cited
1976
Highly Cited
1976
Abstract. The authors report 2 familial cases of neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in the… Expand
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1975
1975
Extract: A male child presented on the first day of life with metabolic acidosis with elevated blood lactate (15 mM), pyruvate (0… Expand
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1975
1975
A complete deficiency in the pyruvate dehydrogenase system activity contributed to the death of a 6-month-old infant with… Expand
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