(Q39253184)

10 September 2017

Biochemical and clinical studies of Friedreich's ataxia (English)

1 reference

10 September 2017

1 reference

2

Baraitser M

1 reference

10 September 2017

Purkiss P

1

1 reference

10 September 2017

Borud O

series ordinal

3

1 reference

10 September 2017

Chalmers RA

series ordinal

4

1 reference

10 September 2017

language of work or name

English

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publication date

1 July 1981

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

10 September 2017

1 reference

10 September 2017

44

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10 September 2017

7

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10 September 2017

574-582

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Peripheral and central somatosensory nerve conduction defects in Friedreich's ataxia

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Urinary organic acids in man. I. Normal patterns

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Evidence for a primary defect of lipoamide dehydrogenase in Friedreich's ataxia

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

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

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Lipoamide dehydrogenase in serum: a preliminary report

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Friedreich's ataxia 1980. An overview of the physiopathology.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Pyruvate dehydrogenase complex in Friedreich's ataxia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Friedreich ataxia. II. Normal kinetics of lipoamide dehydrogenase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Plasma Lipids and Lipoproteins in Friedreich's Ataxia and Familial Spastic Ataxia — Evidence for an Abnormal Composition of High Density Lipoproteins

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Low Activities of the Pyruvate and Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

The intravenous L-alanine tolerance test as a means for investigating gluconeogenesis.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Pyruvate metabolism in Friedreich's ataxia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Bilirubin metabolism - preliminary investigation.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Glucose and insulin metabolism in Friedreich's ataxia.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Genetic and family studies in Friedreich's ataxia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Friedreich's Ataxia 1978--an overview

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Lipoamide dehydrogenase in Friedreich's ataxia fibroblasts

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Pyruvate oxidation in neuromuscular diseases. Evidence of a genetic defect in two families with the clinical syndrome of Friedreich's ataxia.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

Estimation of plasma phosphatase by determination of hydrolysed phenol with amino-antipyrine

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491061

The quantitative extraction and gas-liquid chromatographic determination of organic acids in urine

21 August 2018

1 reference

12 December 2020

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

1 reference

12 December 2020

Amino acid metabolism in Friedreich's ataxia

1 reference

12 December 2020

Methods for the estimation of three vitamin dependent red cell enzymes

1 reference

12 December 2020

Screening for urinary oligosaccharides: a quantitative procedure

1 reference

12 December 2020

Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia

1 reference

12 December 2020

Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia

1 reference

12 December 2020

Friedreich's Ataxia 1979: An Overview

1 reference

12 December 2020

The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients

1 reference

12 December 2020

Screening for organic acidurias and amino acidopathies in newborns and children

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.44.7.574

1 reference

release_avtif5td2veclpcmyskc4ycnti

10 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/avtif5td2veclpcmyskc4ycnti

24 November 2022

mapped directly with Wikidata item

1 reference

10 September 2017

PubMed publication ID

7026736

1 reference