Fructose intolerance

Richardson RM et al. (1979) Pathogenesis of acidosis in hereditary fructose intolerance.

CORNBLATH M et al. (1963) HEREDITARY FRUCTOSE INTOLERANCE.

NIKKILA EA et al. (1962) Hereditary fructose intolerance, an inborn deficiency of liver aldolase complex.

Mandel H et al. (1990) Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma.

Lameire N et al. (1978) Hereditary fructose intolerance: a difficult diagnosis in the adult.

None (1990) Hereditary fructose intolerance in the vomiting infant.

Oberhaensli RD et al. (1987) Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy.

Marks F et al. (1989) Congenital hereditary fructose intolerance and pregnancy.

Perheentupa J et al. (1967) Fructose-induced hyperuricaemia.

Gitzelmann R et al. (1974) Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intolerance.

Levin B et al. (1968) Fructosaemia. Observations on seven cases.

Esposito G et al. (2002) Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

Rennert OM et al. (1970) Hereditary fructosemia.

Köhlin P et al. (1968) Hereditary fructose intolerance in four Swedish families.

Mass RE et al. (1966) The association of hereditary fructose intolerance and renal tubular acidosis.

Raivio K et al. (1967) Aldocase activities in the liver in parents of patients with hereditary fructose intolerance.

Odièvre M et al. (1978) Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients.

Mock DM et al. (1983) Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation.

Cox TM et al. (1982) Pseudodominant transmission of fructose intolerance in an adult and three offspring: Heterozygote detection by intestinal biopsy.

Rampa M et al. (1981) Eleven cases of hereditary fructose intolerance in one Swiss family with a pair of monozygotic and of dizygotic twins.

Baerlocher K et al. (1978) Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.

LEVIN B et al. (1963) Fructosaemia: an inborn error of fructose metabolism.

Santamaria R et al. () 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.

Davit-Spraul A et al. (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.

Sebastio G et al. (1991) Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Cross NC et al. (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance.

Esposito G et al. (2010) Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

Kajihara S et al. (1990) Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.

Cross NC et al. (1990) Partial aldolase B gene deletions in hereditary fructose intolerance.

Cross NC et al. (1989) Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.

Paolella G et al. (1987) Mapping of a restriction fragment length polymorphism within the human aldolase B gene.

Cross NC et al. (1988) Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

Nordmann Y et al. (1968) A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence.

Kranhold JF et al. (1969) Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance.

Ali M et al. (1995) Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.

Ali M et al. (1994) Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

None (1995) Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

Jaeken J et al. (1996) Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

Ali M et al. (1998) Hereditary fructose intolerance.

Steinmann B et al. (1981) The diagnosis of hereditary fructose intolerance.

WOLF H et al. (1959) [Congenital hereditary fructose intolerance].

FROESCH ER et al. (1963) Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase.

OMIM.ORG article

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