(Q28369677)

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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

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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 (English)

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5

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O Sperling

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author name string

E Zoref-Shani

1

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S Feinstein

2

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Y Frishberg

3

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Y Bromberg

4

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language of work or name

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publication date

21 February 2000

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number of pages

7

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Biochimica et Biophysica Acta

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1500

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2

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197-203

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

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Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1 reference

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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1 reference

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Phosphoribosylpyrophosphate in man: biochemical and clinical significance

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Uric acid excretion in normal children

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

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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Canine cyclic hematopoiesis is associated with abnormal purine and pyrimidine metabolism

1 reference

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Substrate stabilization: genetically controlled reciprocal relationship of two human enzymes

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The spectrum of HPRT deficiency: an update.

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Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities

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Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout

1 reference

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Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families

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Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome

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Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acid

1 reference

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Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout

1 reference

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Identifiers

10.1016/S0925-4439(99)00103-9

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release_fc2umzd3krcppgbqkeza7fbrgq

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https://api.fatcat.wiki/v0/release/fc2umzd3krcppgbqkeza7fbrgq

24 November 2022

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