Pyruvate Carboxylase Deficiency Disease

Known as: Ataxia with Lactic Acidosis 2, Ataxia with Lactic Acidosis, Type II, Deficiency Disease, Pyruvate Carboxylase 
An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1936-2017
051019362016

Papers overview

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2010
2010
Although lactic acidosis is a prominent feature of solid tumors, we still have limited understanding of the mechanisms by which… (More)
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2005
2005
A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and… (More)
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2002
2002
In an investigation of the changes in the microflora along the pathway: kefir grains (A)→kefir made from kefir grains (B)→kefir… (More)
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1985
1985
Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this… (More)
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1985
1985
Amino acids were measured in several regions of autopsied brain from an infant who died with congenital lactic acidosis due to… (More)
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1983
1983
This report concerns a patient with severe congenital lacticacidosis associated with proximal renal tubular acidosis and… (More)
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1981
1981
Two unrelated Canadian Indian infants presented with metabolic acidosis. Lactate, pyruvate, glutamic acid, proline and alanine… (More)
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1979
1979
Summary: Normal values are given for the activities of pyruvate carboxylase (E.C. 6.4.1.1), mitochondrial phosphoenolpyruvate… (More)
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Highly Cited
1979
Highly Cited
1979
Lactic streptococci, classically regarded as homolactic fermenters of glucose and lactose, became heterolactic when grown with… (More)
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1979
1979
Summary: A child with lactic acidosis, severe mental and developmental retardation, and proximal renal tubular acidosis is… (More)
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