(Q34072115)

30 July 2017

An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis (English)

1 reference

Congenital lactic acidosis

30 July 2017

0 references

1 reference

1 reference

Blass JP

1

1 reference

30 July 2017

Schulman JD

series ordinal

2

1 reference

30 July 2017

Young DS

series ordinal

3

1 reference

30 July 2017

Hom E

series ordinal

4

1 reference

30 July 2017

language of work or name

English

0 references

publication date

1 July 1972

1 reference

Journal of Clinical Investigation

30 July 2017

1 reference

30 July 2017

51

1 reference

30 July 2017

1845-1851

1 reference

30 July 2017

7

1 reference

Familial chronic acidosis due to an error in lactate and pyruvate metabolism

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Lactic acidosis with necrotizing encephalopathy in two sibs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Chronic congenital lactic acidosis. A fatal case with hyperphosphatemia and hyperlipemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Fatal congenital lactic acidosis in two siblings. II. Biochemical studies in vivo and in vitro.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Multiple forms of pig myocardial lipoamide dehydrogenase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Chronic lactic acidosis of infancy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Catalytic Functions of Thiamin Diphosphate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

The metabolism of rat brain mitochondria. Preparation and characterization.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Regulation of pyruvate dehydrogenase from Escherichia coli. Interactions of adenylate energy charge and other regulatory parameters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Pyruvate dehydrogenase, substrate specificity and product inhibition.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Intermittent ataxia with pyruvate-decarboxylase deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Studies on experimental thiamine deficiency. 2. Tissue breakdown and glyoxylic acid formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

FAMILIAL INFANTILE LACTIC ACIDOSIS.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

CHRONIC ACIDOSIS DUE TO AN ERROR IN LACTATE AND PYRUVATE METABOLISM. REPORT OF TWO CASES.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

THE GLYOXYLIC ACID CONTENT OF HUMAN BLOOD AND ITS RELATIONSHIP TO THIAMINE DEFICIENCY

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Control of the citric acid cycle by glyoxylate. 2. Mechanism of the inhibition of respiration in liver and kidney particles

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Fatal congenital lactic acidosis in two siblings. I. Clinical and pathological findings

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Hyperalaninemia with Pyruvicemia (Preliminary Report)

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292332

Mammalian alpha-keto acid dehydrogenase complexes. V. Resolution and reconstitution studies of the pig heart pyruvate dehydrogenase complex

28 October 2018

1 reference

12 December 2020

Lactate metabolism. Studies of a child with a serious congenital deviation

1 reference

12 December 2020

Enzyme and protein polymorphism in human populations

1 reference

12 December 2020

Measurement of citrate synthase activity in human fibroblasts

1 reference

12 December 2020

1 reference

12 December 2020

Fluorimetric determination of citric acid. Accomplishment by autoanalysis

1 reference

12 December 2020

Kinetic and regulatory properties of heart muscle pyruvate dehydrogenase

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI106986

1 reference

30 July 2017

1 reference

30 July 2017

1 reference