Hypouricämie

Stibůrková B et. al. (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

Zivná M et. al. (2009) Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Stibůrková B et. al. (2000) Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

Turner JJ et. al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

Vylet'al P et. al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

McBride MB et. al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.

Zoref-Shani E et al. (2000) Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.

Gartler SM et. al. (1975) Half chromatid mutations: transmission in humans?

Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.

Francke U et al. (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

LESCH M et al. (1964) A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

HOEFNAGEL D et al. (1965) HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.

Francke U et. al. (1977) Answer to criticism of Morton and Lalouel.

Wilson JM et. al. (1986) A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

Kelley WN et al. (1967) A specific enzyme defect in gout associated with overproduction of uric acid.

Nabholz M et. al. (1969) Genetic analysis with human--mouse somatic cell hybrids.

McDonald JA et al. (1971) Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

Silvers DN et. al. (1972) Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis.

Migeon BR et. al. (1968) X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.

Nyhan WL et al. (1970) Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.

Greene ML et. al. (1970) Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.

Henderson JF et al. (1969) Inheritance of purine phosphoribosyltransferases in man.

Seegmiller JE et. al. (1967) Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Rosenbloom FM et. al. (1967) Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.

Lloyd KG et. al. (1981) Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.

Strauss GH et. al. (1980) An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.

Ernst M et al. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease.

Nyhan WL et al. (1996) New approaches to understanding Lesch-Nyhan disease.

Wong DF et. al. (1996) Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo.

Morton NE et al. (1977) Genetic epidemiology of Lesch-Nyhan disease.

None (1977) A probable sex difference in some mutation rates.

Graham GW et. al. (1996) Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.

Dehghan A et. al. (2008) Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

Matsuo H et. al. (2009) Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.

Döring A et. al. (2008) SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.

Vitart V et. al. (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.

Matsuo H et. al. (2008) Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

Martinon F et. al. (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome.

Hodanová K et. al. (2005) Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

Cameron JS et. al. (1990) Precocious familial gout.

Van Goor W et. al. (1971) An unusual form of renal disease associated with gout and hypertension.

Leumann EP et. al. (1983) Familial nephropathy with hyperuricemia and gout.

Massari PU et. al. (1980) Familial hyperuricemia and renal disease.

Simmonds HA et. al. (1980) Familial gout and renal failure in young women.

Saeki A et. al. (1995) Newly discovered familial juvenile gouty nephropathy in a Japanese family.

McBride MB et. al. (1997) Familial renal disease or familial juvenile hyperuricaemic nephropathy?

Kamatani N et. al. (2000) Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.

Fairbanks LD et. al. (2002) Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease.

Stacey JM et. al. (2003) Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.

DUNCAN H et. al. (1960) Gout, familial hypericaemia, and renal disease.

Dahan K et. al. (2003) A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

Zaucke F et. al. (2010) Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Bernascone I et. al. (2010) A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

Piret SE et. al. (2011) Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.

Frank M et. al. (1979) Familial renal hypouricaemia: two additional cases with uric acid lithiasis.

Bakay B et. al. (1979) Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.

Benjamin D et. al. (1978) Familial hypouricemia due to isolated renal tubular abnormality.

Upchurch KS et. al. (1975) Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.

Ghangas GS et. al. (1975) Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.

Akaoka I et. al. (1975) Familial hypouricaemia due to renal tubular defect of urate transport.

Yukawa T et al. (1992) A female patient with Lesch-Nyhan syndrome.

Moro F et. al. (1991) Does allopurinol affect the progression of familial juvenile gouty nephropathy?

Yokota N et. al. (1991) Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family.

Moro F et. al. (1991) Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease.

Sanberg PR et. al. (1990) Neural basis of behavior: animal models of human conditions.

Gafter U et. al. (1989) Hypouricemia due to familial isolated renal tubular uricosuria. Evaluation with the combined pyrazinamide-probenecid test.

Page T et. al. (1987) Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Andrés A et al. (1987) Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.

Takeda E et. al. (1985) Hereditary renal hypouricemia in children.

van der Zee SP et. al. (1968) Megaloblastic anaemia in the Lesch-Nyhan syndrome.

Fujimoto WY et. al. (1968) Biochemical diagnosis of an X-linked disease in utero.

Khachadurian AK et. al. (1973) Hypouricemia due to renal uricosuria. A case study.

Albertini RJ et. al. (1973) Somatic cell mutation. Detection and quantification of x-ray-induced mutation in cultured, diploid human fibroblasts.

Greene ML et. al. (1972) Hypouricemia due to isolated renal tubular defect. Dalmatian dog mutation in man.

Boyle JA et al. (1970) Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.

Gibbs DA et. al. (1984) First-trimester diagnosis of Lesch-Nyhan syndrome.

Harkness RA et. al. (1983) Xanthine oxidase deficiency and 'Dalmatian' hypouricaemia: incidence and effect of exercise.

Shichiri M et. al. (1982) Hypouricemia due to an increment in renal tubular urate secretion.

Weitz R et. al. (1980) Hereditary renal hypouricemia. Isolated tubular defect of urate reabsorption.

Hedley JM et. al. (1980) Familial hypouricaemia associated with renal tubular uricosuria and uric acid calculi: case report.

Jinnah HA et. al. (1994) Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.

Nyhan WL et al. (1997) The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.

Enomoto A et. al. (2002) Molecular identification of a renal urate anion exchanger that regulates blood urate levels.

Tanaka M et. al. (2003) Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.

Ichida K et. al. (2008) Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.

Hladnik U et al. (2008) Variable expression of HPRT deficiency in 5 members of a family with the same mutation.

Ceballos-Picot I et. al. (2009) Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.

Cristini S et. al. (2010) Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.

Sarafoglou K et. al. (2010) Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.

Fu R et. al. (2015) Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.

None (1979) Genetics of hyperuricemia in families with gout.

Healey LA et. al. (1967) Hyperuricemia in Filipinos: interaction of heredity and environment.

HAUGE M et. al. (1955) Heredity in gout and hyperuricemia.

None (1960) Heredity in primary gout.

NEEL JV et. al. (1965) STUDIES ON HYPERURICEMIA. II. A RECONSIDERATION OF THE DISTRIBUTION OF SERUM URIC ACID VALUES IN THE FAMILIES OF SMYTH, COTTERMAN, AND FREYBERG.

Cheng LS et. al. (2004) Genomewide scan for gout in taiwanese aborigines reveals linkage to chromosome 4q25.

Woodward OM et. al. (2011) ABCG transporters and disease.

Köttgen A et. al. (2013) Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

Belostotsky R et. al. (2011) Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.

Sulem P et. al. (2011) Identification of low-frequency variants associated with gout and serum uric acid levels.