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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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2018
2018
Model Informed Dose Optimization of Dichloroacetate for the Treatment of Congenital Lactic Acidosis in Children
Dichloroacetate (DCA) is an investigational drug used to treat congenital lactic acidosis and other mitochondrial disorders… 
1990
1990
Deficiency of the α and β subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death
An infant with moderate muscular hypotonia and congenital lactic acidosis died suddenly at the age of 3 months. Autopsy revealed… 
1990
1990
Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast.
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… 
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… 
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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