(Q41885794)

13 October 2017

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population (English)

1 reference

13 October 2017

Erin M Coffee

1

1 reference

13 October 2017

Laura Yerkes

2

1 reference

13 October 2017

Elizabeth P Ewen

3

1 reference

13 October 2017

Tiffany Zee

4

1 reference

13 October 2017

Dean R Tolan

5

1 reference

13 October 2017

23 December 2009

1 reference

Journal of Inherited Metabolic Disease

13 October 2017

1 reference

13 October 2017

33

1 reference

13 October 2017

1

1 reference

13 October 2017

33-42

1 reference

Fructose intake at current levels in the United States may cause gastrointestinal distress in normal adults

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

A six-month-old infant with liver steatosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

The genetic consequences of our sweet tooth

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Hereditary fructose intolerance and alpha(1) antitrypsin deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

DNA diagnosis of fatal fructose intolerance from archival tissue

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Aldolase B and fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

A partially active mutant aldolase B from a patient with hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Iatrogenic deaths in hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Fatal liver dystrophy in 3 siblings with hereditary fructose intolerance after long-lasting infusion with sorbitol solutions

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Partial aldolase B gene deletions in hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Molecular evidence for compound heterozygosity in hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Molecular analysis of aldolase B genes in hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Aldolase B mutations in Italian families affected by hereditary fructose intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Case Report: Heterogeneity of Aldolase B in Hereditary Fructose Intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Hereditary fructose intolerance: A difficult diagnosis in the adult

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Postoperative fructose infusion in a case of presumed hereditary fructose intolerance (author's transl)

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Fatal sorbitol infusion in patient with fructose-sorbitol intolerance

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Fructose intolerance in children presenting with abdominal pain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Fructose breath hydrogen test--is it really a harmless diagnostic procedure?

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Fructose intolerance: an under-recognized problem

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Simple method for detection of mutations causing hereditary fructose intolerance

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Mutation analysis in Turkish patients with hereditary fructose intolerance

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954661

Hereditary fructose intolerance in an adult

18 August 2018

1 reference

12 December 2020

Hereditary fructose intolerance

1 reference

12 December 2020

Mutation of aldolase B genes in hereditary fructose intolerance

1 reference

12 December 2020

A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand

1 reference

12 December 2020

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion

1 reference

12 December 2020

[Hereditary fructose intolerance]

1 reference

12 December 2020

Simple, rapid nonradioactive method to detect the three most prevalent hereditary fructose intolerance mutations

1 reference

12 December 2020

Aldolase B mutations in Turkish families from central Anatolia

1 reference

12 December 2020

[Anomaly of hepatic aldolase in intolerance to fructose.]

1 reference

12 December 2020

Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans

1 reference

12 December 2020

The molecular basis of hereditary fructose intolerance in Italian children

1 reference

12 December 2020

An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children

1 reference

12 December 2020

Hereditary fructose intolerance

1 reference

12 December 2020

Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications

1 reference

12 December 2020

The diagnosis of hereditary fructose intolerance

1 reference

12 December 2020

Congenital fructose intolerance. New molecular aspects

1 reference

12 December 2020

10.1007/S10545-009-9008-7

Identifiers

DOI

1 reference

Dimensions Publication ID

13 October 2017

0 references

1 reference

13 October 2017

PubMed publication ID

20033295

1 reference