Condition: Hereditary fructose intolerance syndrome


rs1057516534 in ALDOB gene and Hereditary fructose intolerance syndrome PMID 25595217 2015 Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

PMID 18541450 2008 Eight novel mutations were also identified in 10 families with HFI: a one-base deletion (c.146delT (p.V49GfsX27)), a small deletion (c.953del42bp), a small insertion (c.689ins TGCTAA (p.K230MfsX136)), one splice site mutation (c.112+1G>A), one nonsense mutation (c.444G>A (p.W148X)), and three missense mutations (c.170G>C (p.R57P), c.839C>A (p.A280P) and c.932T>C (p.L311P)).

PMID 10024431 1999 Screening for hereditary fructose intolerance mutations by reverse dot-blot.

PMID 8071980 1994 Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

PMID 8535439 1995 Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

PMID 9610797 1998 Hereditary fructose intolerance.

PMID 20033295 2010 Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

PMID 20848650 2010 Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

PMID 11757579 2001 Mutation analysis in Turkish patients with hereditary fructose intolerance.

PMID 15880727 2005 The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

PMID 26937407 2015 Hereditary fructose intolerance in Brazilian patients.

PMID 8299883 1994 A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

PMID 18541450 2008 Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

PMID 8299892 1994 Aldolase B and fructose intolerance.

PMID 10970798 2000 Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 23430936 2012 Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

PMID 8162030 1994 Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.

PMID 1967768 1990 Molecular analysis of aldolase B genes in hereditary fructose intolerance.

PMID 12205126 2002 Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.

PMID 2336380 1990 A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

PMID 15532022 2004 Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

PMID 3383242 1988 Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

PMID 12417303 2002 Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

PMID 12464284 2002 The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance.

PMID 16406649 2006 Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.

PMID 27797444 2017 Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

PMID 15733923 2005 Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance.

PMID 8096362 1993 Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.

PMID 19768653 2009 Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K).

PMID 6348085 1983 Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.

PMID 20882353 2010 Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.

PMID 20848650 2010 Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI.

PMID 16630753 2006 Hereditary fructose intolerance and celiac disease: a novel genetic association.

PMID 15880727 2005 Eight novel mutations were identified in eight families with HFI: a small indel mutation (c.1044_1049delTTCTGGinsACACT), two small deletions (c.345_372del28; c.841_842delAC), two splice site mutations (c.113-1G>A, c.799+2T>A), one nonsense mutation (c.612T>G (p.Y204X)), and two missense mutations (c.532T>C (p.C178R), c.851T>C (p.L284P)).

PMID 23114028 2012 Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance.

PMID 8438046 1993 DNA diagnosis of fatal fructose intolerance from archival tissue.

PMID 17955389 2007 Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.

PMID 2339710 1990 Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

PMID 8880583 1996 Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

PMID 8292669 1993 The molecular basis of hereditary fructose intolerance in Italian children.

PMID 7717389 1995 Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.

PMID 10625657 2000 Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis.

PMID 10229688 1999 Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance.

PMID 1856829 1991 Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

PMID 19768653 2009 Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K).

PMID 2349937 1990 Partial aldolase B gene deletions in hereditary fructose intolerance.

rs137854523 in ANO5 gene and Hereditary fructose intolerance syndrome PMID 23670307 2013 Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 20096397 2010 Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

PMID 22402862 2012 Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

PMID 23041008 2013 Dilated cardiomyopathy in patients with mutations in anoctamin 5.

PMID 23606453 2013 ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

PMID 23663589 2013 ANO5-muscular dystrophy: clinical, pathological and molecular findings.