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Congenital lactic acidosis

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

Papers overview

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2007
2007
Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery.
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… 
Highly Cited
1997
Highly Cited
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… 
1989
1989
Mitochondrial myopathy and cardiomyopathy in siblings.
1985
1985
Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate.
We describe the successful use of sodium benzoate in a neonate with hyperammonemia associated with congenital lactic acidosis… 
Highly Cited
1982
Highly Cited
1982
CONGENITAL LACTIC ACIDOSIS, α‐KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY
ABSTRACT. A 6 month‐old girl with vomiting, hypotonia and motor retardation was found to have elevated blood lactate, pyruvate… 
1978
1978
Dichloroacetate as treatment for congenital lactic acidosis.
1976
1976
Structure of some aliphatic dicarboxylic acids found in the urine of an infant with congenital lactic acidosis.
Gas chromatography/mass spectrometry was used to identify a series of acids in urine and serum from a child who died 26 h after… 
Highly Cited
1975
Highly Cited
1975
Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy
Extract: A male child presented on the first day of life with metabolic acidosis with elevated blood lactate (15 mM), pyruvate (0… 
1971
1971
FATAL CONGENITAL LACTIC ACIDOSIS IN TWO SIBLINGS
Two siblings have been described who developed a fatal metabolic acidosis during the first days of life. The acidosis was found… 
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