(Q40214019)

18 September 2017

title

Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis (English)

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18 September 2017

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Chalmers RA

1

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18 September 2017

publication date

1 January 1984

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Journal of Inherited Metabolic Disease

18 September 2017

published in

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18 September 2017

volume

7 Suppl 1

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18 September 2017

page(s)

79-89

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https://scigraph.springernature.com/pub.10.1007/bf03047380

18 September 2017

exact match

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cites work

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

1 reference

https://api.crossref.org/works/10.1007%2FBF03047380

Mitochondrial myopathies: defects in mitochondrial metabolism in human skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03047380

Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03047380

Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03047380

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

21 January 2018

1 reference

12 December 2020

A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine.

1 reference

12 December 2020

Two cases of phosphoenolpyruvate carboxykinase deficiency

1 reference

12 December 2020

Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro

1 reference

12 December 2020

Studies on alpha-ketoglutaric aciduria in type I glycogenosis

1 reference

12 December 2020

Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy

1 reference

12 December 2020

Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency

1 reference

12 December 2020

Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis

1 reference

12 December 2020

Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency

1 reference

12 December 2020

Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation

1 reference

12 December 2020

A Defect in Branched-Chain Amino Acid Metabolism in a Patient with Congenital Lactic Acidosis due to Dihydrolipoyl Dehydrogenase Deficiency

1 reference

12 December 2020

Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency

1 reference

12 December 2020

GLUCONEOGENESIS IN INFANCY AND CHILDHOOD III. Deficiency of the Extramitochondrial Form of Hepatic Phosphoenolpyruvate Carboxykinase in a Case of Persistent Neonatal Hypoglycaemia

1 reference

12 December 2020

The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

1 reference

12 December 2020

Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

1 reference

12 December 2020

Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency

1 reference

12 December 2020

Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings

1 reference

12 December 2020

Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency

1 reference

12 December 2020

Inborn errors of pyruvate metabolism

1 reference

12 December 2020

1 reference

12 December 2020

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

1 reference

12 December 2020

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

1 reference

12 December 2020

Abnormal Pyruvate and α-Ketoglutarate Dehydrogenase Complexes in a Patient with Lactic Acidemia

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF03047380

1 reference

Dimensions Publication ID

18 September 2017

1032550352

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1 reference