(Q35114768)

6 August 2017

title

Inherited disorders of 3-methylcrotonyl CoA carboxylation (English)

1 reference

6 August 2017

Leonard JV

1

1 reference

6 August 2017

Seakins JW

2

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6 August 2017

Bartlett K

3

1 reference

6 August 2017

Hyde J

4

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6 August 2017

Wilson J

5

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6 August 2017

Clayton B

6

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6 August 2017

language of work or name

English

0 references

publication date

1 January 1981

1 reference

Archives of Disease in Childhood

6 August 2017

published in

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6 August 2017

volume

56

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6 August 2017

issue

1

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6 August 2017

page(s)

53-59

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Protein measurement with the Folin phenol reagent

6 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=1627071

Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627071

Localisation of enzymic defect in propionicacidaemia.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627071

Beta-methylcrotonic aciduria associated with lactic acidosis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627071

Organic aciduria. Treatable cause of floppy infant syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627071

Biotin-responsive alopecia and developmental regression

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627071

Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627071

Isovaleric acidemia: results of family study and dietary treatment.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627071

Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627071

Biotin-responsive beta-methylcrotonylglycinuria

27 September 2018

1 reference

12 December 2020

Evidence for the enzymic defect in β-methylcrotonylglycinuria

1 reference

12 December 2020

Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis

1 reference

12 December 2020

The occurrence and identification of o-hydroxyhippuric acid (salicyluric acid) in the urine of sick children

1 reference

12 December 2020

Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase

1 reference

12 December 2020

The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

1 reference

12 December 2020

beta-Hydroxy-beta-methyglutaricaciduria presenting as Reye's syndrome

1 reference

12 December 2020

A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria

1 reference

12 December 2020

A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria

1 reference

12 December 2020

Fatty-acid-responsive alopecia in multiple carboxylase deficiency

1 reference

12 December 2020

Clinical biotin deficiency (egg white injury); report of a case with some remarks on serum cholesterol

1 reference

12 December 2020

Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.56.1.53

1 reference

release_ahuhh77xbbfcphbp75cqr6bhw4

6 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ahuhh77xbbfcphbp75cqr6bhw4

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1627071

1 reference

6 August 2017

1 reference