(Q40672693)

22 September 2017

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title

Clinical and biochemical aspects of uric acid overproduction (English)

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22 September 2017

J García Puig

1

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22 September 2017

F A Mateos

series ordinal

2

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22 September 2017

language of work or name

English

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publication date

1 April 1994

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International Journal of Clinical Pharmacy

22 September 2017

published in

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22 September 2017

volume

16

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22 September 2017

issue

2

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22 September 2017

page(s)

40-54

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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

22 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FBF01880655

Herpes simplex virus-mediated human hypoxanthine-guanine phosphoribosyltransferase gene transfer into neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880655

Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880655

Suppression of glycine-15N incorporation into urinary uric acid by adenine-8-13C in normal and gouty subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880655

The Pathogenesis of Hyperuricemia in Glycogen Storage Disease, Type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880655

Xanthine oxidase activity in human tissues and its inhibition by allopurinol (4-hydroxypyrazolo[3,4-d] pyrimidine)

21 January 2018

1 reference

12 December 2020

Enzyme defect in primary gout

1 reference

12 December 2020

Identification of the causes of persistent hyperuricaemia

1 reference

12 December 2020

Uric acid metabolism in psoriasis

1 reference

12 December 2020

Gout and blood dyscrasias

1 reference

12 December 2020

Distinct neurological syndrome in two brothers with hyperuricaemia

1 reference

12 December 2020

Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts

1 reference

12 December 2020

Hypoxanthine as an indicator of hypoxia: its role in health and disease through free radical production

1 reference

12 December 2020

Metabolic basis for disorders of purine nucleotide degradation

1 reference

12 December 2020

Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity

1 reference

12 December 2020

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

1 reference

12 December 2020

Concentration of purine nucleotides in erythrocytes of patients with the Lesch-Nyhan syndrome before and during oral administration of adenine

1 reference

12 December 2020

Renal excretion of hypoxanthine and xanthine in primary gout

1 reference

12 December 2020

Enhanced adenine nucleotide degradation in chronic obstructive pulmonary disease: the effect of oxygen therapy.

1 reference

12 December 2020

Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism

1 reference

12 December 2020

Gout, uric acid and purine metabolism in paediatric nephrology

1 reference

12 December 2020

Effect of fructose on the concentration of phosphoribosylpyrophosphate in isolated hepatocytes

1 reference

12 December 2020

Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation

1 reference

12 December 2020

Effect of hypophosphatemia on myocardial performance in man

1 reference

12 December 2020

Hypophosphatemia and rhabdomyolysis

1 reference

12 December 2020

Plasma hypoxanthine and exercise

1 reference

12 December 2020

Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions

1 reference

12 December 2020

Measurement of free nucleotides in cultured human lymphoid cells using high pressure liquid chromatography

1 reference

12 December 2020

Adenosine triphosphate degradation in specific disease

1 reference

12 December 2020

Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome.

1 reference

12 December 2020

Ethanol-induced activation of adenine nucleotide turnover. Evidence for a role of acetate

1 reference

12 December 2020

Human glutamine phosphoribosylpyrophosphate amidotransferase. Two molecular forms interconvertible by purine ribonucleotides and phosphoribosylpyrophosphate

1 reference

12 December 2020

Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate

1 reference

12 December 2020

Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout

1 reference

12 December 2020

An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities.

1 reference

12 December 2020

Self-mutilation in Lesch-Nyhan disease is caused by dopaminergic denervation

1 reference

12 December 2020

Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage

1 reference

12 December 2020

Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex.

1 reference

12 December 2020

Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production

1 reference

12 December 2020

Long-term follow-up of ten patients with Lesch-Nyhan syndrome.

1 reference

12 December 2020

Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII.

1 reference

12 December 2020

Depletion of Liver Adenosine Phosphates and Metabolic Effects of Intravenous Infusion of Fructose or Sorbitol in Man and in the Rat,**

1 reference

12 December 2020

Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout

1 reference

12 December 2020

Abnormal AMP deaminase in primary gout

1 reference

12 December 2020

Functional and Metabolic Studies of Platelets from Patients with Lesch-Nyhan Syndrome

1 reference

12 December 2020

A new disorder of purine metabolism with behavioral manifestations.

1 reference

12 December 2020

Diagnostic evaluation of phosphoribosylpyrophosphate synthetase activities in hemolysates

1 reference

12 December 2020

Enhanced purine salvage during allopurinol therapy: an important pharmacologic property in humans

1 reference

12 December 2020

Alterations in Purine Metabolism in Cultured Fibroblasts with HGPRT Deficiency and with PRPP Synthetase Superactivity

1 reference

12 December 2020

Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate

1 reference

12 December 2020

PRPP synthetase superactivity in lymphoblast lines

1 reference

12 December 2020

Studies on the mechanism of fructose-induced hyperuricemia in man.

1 reference

12 December 2020

Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII

1 reference

12 December 2020

Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage

1 reference

12 December 2020

Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases.

1 reference

12 December 2020

Increased body fluid purine levels during hypotensive events. Evidence for ATP degradation

1 reference

12 December 2020

Regional Localization of the Gene for Human Phosphoribosylpyrophosphate Synthetase on the X Chromosome

1 reference

12 December 2020

Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate

1 reference

12 December 2020

Evidence for adenosine triphosphate degradation in critically-ill patients

1 reference

12 December 2020

Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction

1 reference

12 December 2020

Investigation and management of gout in the young and the elderly

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyl transferase deficiency

1 reference

12 December 2020

Ethanol-induced hyperuricemia: evidence for increased urate production by activation of adenine nucleotide turnover

1 reference

12 December 2020

Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyl-transferase deficiency: evidence for an increased contribution of purine biosynthesis de novo

1 reference

12 December 2020

Hyperuricemia in acute illness: a poor prognostic sign

1 reference

12 December 2020

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

1 reference

12 December 2020

Further Observations on the Use of 5-Hydroxytryptophan in a Child with Lesch-Nyhan Syndrome

1 reference

12 December 2020

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome

1 reference

12 December 2020

Biochemical Evidence of Dysfunction of Brain Neurotransmitters in the Lesch-Nyhan Syndrome

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity

1 reference

12 December 2020

[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases]

1 reference

12 December 2020

Sickle Cell Anemia and Hyperuricemia

1 reference

12 December 2020

Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity

1 reference

12 December 2020

Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis

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12 December 2020

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

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12 December 2020

Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients

1 reference

12 December 2020

Dependence of the metabolic fate of IMP on the rate of total IMP synthesis. Studies in cultured fibroblasts from normal subjects and from purine-overproducing mutant patients.

1 reference

12 December 2020

Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme

1 reference

12 December 2020

McArdle's disease and gout

1 reference

12 December 2020

Hyperuricemia and neurologic deficits. A family study

1 reference

12 December 2020

Nocturnal increase of urinary uric acid:creatinine ratio. A biochemical correlate of sleep-associated hypoxemia

1 reference

12 December 2020

Localization of xanthine oxidase in mammary-gland epithelium and capillary endothelium

1 reference

12 December 2020

Renal handling of uric acid in gout: impaired tubular transport of urate not dependent on serum urate levels

1 reference

12 December 2020

Adenine Nucleotide Metabolism in Liver Ischemia: Effect of Allopurinol

1 reference

12 December 2020

Purine metabolism during strenuous muscular exercise in man

1 reference

12 December 2020

Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations.

1 reference

12 December 2020

A gouty family with increased phosphoribosylpyrophosphate synthetase activity: case reports, familial studies, and kinetic studies of the abnormal enzyme

1 reference

12 December 2020

Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.

1 reference

12 December 2020

Substrate stabilization: genetically controlled reciprocal relationship of two human enzymes

1 reference

12 December 2020

Erythrocyte ATP (iATP) as an indicator of neonatal hypoxia

1 reference

12 December 2020

Relationships between glycogen storage disease and tophaceous gout

1 reference

12 December 2020

Uric acid metabolism in psoriasis

1 reference

12 December 2020

Thalassemia and Gouty Arthritis

1 reference

12 December 2020

Biochemical Characteristics of 8-Azaguanine Resistant Human Lymphoblast Mutants Selected in Vitro

1 reference

12 December 2020

Juvenile metabolic gout caused by chronic compensated hemolytic syndrome

1 reference

12 December 2020

Purine nucleotide synthesis in lymphoblasts cultured from normal subjects and a patient with Lesch-Nyhan syndrome.

1 reference

12 December 2020

Allopurinol in renal failure and the tumour lysis syndrome

1 reference

12 December 2020

Normal intelligence in the Lesch-Nyhan syndrome

1 reference

12 December 2020

Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy

1 reference

12 December 2020

Excessive ATP degradation during hemodialysis against sodium acetate

1 reference

12 December 2020

Phosphoribosylpyrophosphate Synthetase Superactivity: Detection, Characterization of Underlying Defects, and Treatment

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01880655

1 reference

22 September 2017

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