(Q33674405)

28 July 2017

title

Null alleles of the aldolase B gene in patients with hereditary fructose intolerance (English)

1 reference

28 July 2017

3

N C Cross

1 reference

28 July 2017

M Ali

1

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28 July 2017

G Tunçman

2

1 reference

28 July 2017

M Vidailhet

4

1 reference

28 July 2017

I Bökesoy

5

1 reference

28 July 2017

R Gitzelmann

6

1 reference

28 July 2017

T M Cox

7

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28 July 2017

language of work or name

English

0 references

publication date

1 June 1994

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

31

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28 July 2017

issue

6

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28 July 2017

page(s)

499-503

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DNA diagnosis of fatal fructose intolerance from archival tissue

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

Multiple forms of fructose diphosphate aldolase in mammalian tissues

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

Characterization of the human aldolase B gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

The structural gene for aldolase B (ALDB) maps to 9q13----32

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

Partial aldolase B gene deletions in hereditary fructose intolerance

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

Molecular analysis of aldolase B genes in hereditary fructose intolerance

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049933

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

14 July 2018

1 reference

12 December 2020

Inherited metabolic disorders in Turkey

1 reference

12 December 2020

[Anomaly of hepatic aldolase in intolerance to fructose.]

1 reference

12 December 2020

Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.6.499

1 reference

28 July 2017

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28 July 2017

1 reference