(Q35575222)

8 August 2017

title

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

1 reference

8 August 2017

Blass JP

1

1 reference

8 August 2017

Avigan J

series ordinal

2

1 reference

8 August 2017

Uhlendorf BW

series ordinal

3

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 March 1970

1 reference

Journal of Clinical Investigation

8 August 2017

published in

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8 August 2017

volume

49

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8 August 2017

issue

3

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8 August 2017

page(s)

423-432

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Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Argininosuccinic aciduria. A new form of mental deficiency due to metabolic causes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Amino acid metabolism in mammalian cell cultures

27 July 2018

1 reference

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27 July 2018

Acute cerebellar ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Lactic acidosis with necrotizing encephalopathy in two sibs

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

27 July 2018

Non-Darwinian Evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Encephalopathy of thiamine deficiency: studies of intracerebral mechanisms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Genetics in medicine: a review

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Blood pyruvate and lactate during febrile human infections

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Refsum's disease: characterization of the enzyme defect in cell culture

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Uptake of radioactive alanine in vitro into the proteins of rat liver fractions.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Subacute necrotizing encephalomyelopathy in an infant

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Blood pyruvate estimations in the diagnosis and treatment of polyneuritis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

FAMILIAL INFANTILE LACTIC ACIDOSIS.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

PYRUVATE CARBOXYLASE. I. NATURE OF THE REACTION

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Carbohydrate metabolism in brain disease. VIII. Carbohydrate metabolism in Wernicke's encephalopathy associated with alcoholism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Genetic Load and Its Varieties

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

A syndrome resembling Friedreich's ataxia with relapsing polyneuropathy and hyperalaninemia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Encephalopathy and pyruvate metabolism.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Infantile Subacute Necrotizing Encephalomyelopathy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Acute Intermittent Familial Cerebellar Ataxia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Hyperalaninemia with Pyruvicemia (Preliminary Report)

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322489

Glutathione reductase: stimulation in normal subjects by riboflavin supplementation

15 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Abnormal resting blood lactate. I. The significance of hyperlactatemia in hospitalized patients

1 reference

12 December 2020

Refsum's disease--a recently characterized lipidosis involving the nervous system. Combined clinical staff conference at the National Institutes of Health

1 reference

12 December 2020

Leukocyte preparations from human blood: evaluation of their morphologic and metabolic state

1 reference

12 December 2020

The role of carnitine and carnitine acyltransferase in biological acetylations and fatty acid synthesis

1 reference

12 December 2020

Observations on an enzymic method for the estimation of pyruvate in blood

1 reference

12 December 2020

Serum glutamic pyruvic transaminase in cardiac with hepatic disease

1 reference

12 December 2020

Lactic Acidosis Secondary to Pernicious Anemia

1 reference

12 December 2020

Enzyme and protein polymorphism in human populations

1 reference

12 December 2020

Clinical application of blood transketolase determinations

1 reference

12 December 2020

Late-onset branched-chain ketoaciduria: (maple syrup urine disease)

1 reference

12 December 2020

Hyperalaninemia with pyruvicemia

1 reference

12 December 2020

Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria

1 reference

12 December 2020

Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease

1 reference

12 December 2020

Kinetic and regulatory properties of heart muscle pyruvate dehydrogenase

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI106251

1 reference

8 August 2017

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8 August 2017

1 reference