(Q42663235)

English

Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population

scientific article published on October 1996

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population (English)

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

author name string

C L James

1

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

P Rellos

2

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

M Ali

3

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

A F Heeley

4

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

T M Cox

5

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

language of work or name

0 references

publication date

1 October 1996

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

33

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

10

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

837-841

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Mendelian proportions in a mixed population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050763

27 May 2018

DNA diagnosis of fatal fructose intolerance from archival tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050763

27 May 2018

Aldolase B and fructose intolerance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050763

27 May 2018

Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050763

27 May 2018

Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050763

27 May 2018

Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050763

27 May 2018

Molecular analysis of aldolase B genes in hereditary fructose intolerance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050763

27 May 2018

Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050763

27 May 2018

Genetic diagnosis of Gaucher's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IDIOSYNCRASY TO FRUCTOSE

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.10.837

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

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