(Q48151486)

9 February 2018

title

Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF. (English)

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9 February 2018

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R A Harkness

1

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9 February 2018

G M McCreanor

series ordinal

2

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9 February 2018

R W Watts

series ordinal

3

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9 February 2018

publication date

1 January 1988

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9 February 2018

Journal of Inherited Metabolic Disease

published in

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9 February 2018

volume

11

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9 February 2018

issue

3

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9 February 2018

page(s)

239-252

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9 February 2018

https://scigraph.springernature.com/pub.10.1007/bf01800365

exact match

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cites work

Study of purine metabolism in a xanthinuric female

1 reference

https://api.crossref.org/works/10.1007%2FBF01800365

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF01800365

Inhibition of cerebral protein synthesis by epileptic seizures without motor manifestations.

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF01800365

Effects of neonatal status epilepticus on rat brain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01800365

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

21 January 2018

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12 December 2020

Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects

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12 December 2020

Severe allopurinol toxicity. Description and guidelines for prevention in patients with renal insufficiency

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12 December 2020

The free amino acids of human spinal fluid determined by ion exchange chromatography.

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12 December 2020

Xanthine oxidase: biochemistry, distribution and physiology

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12 December 2020

High-performance liquid chromatographic methods for base and nucleoside analysis in extracellular fluids and in cells

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12 December 2020

Xanthine oxidase from human liver: purification and characterization

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12 December 2020

The amino acid content of human cerebrospinal fluid in normal individuals and in mental defectives

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12 December 2020

Intrapartum hypoxia: the association between neurological assessment of damage and abnormal excretion of ATP metabolites

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12 December 2020

Deamination of guanine to xanthine: a metabolic pathway of underestimated importance in human purine catabolism?

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12 December 2020

Uric acid excretion in infants and children

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12 December 2020

Control of brain neurotransmitter synthesis by precursor availability and nutritional state

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12 December 2020

Membrane Transport of Purine and Pyrimidine Bases and Nucleosides in Animal Cells

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12 December 2020

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

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12 December 2020

Cerebrospinal fluid concentrations of hypoxanthine, xanthine, uridine and inosine: high concentrations of the ATP metabolite, hypoxanthine, after hypoxia

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12 December 2020

Cerebral energy metabolism during experimental status epilepticus

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12 December 2020

Study of the utilization and excretion of dietary purines in a xanthinuric man.

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12 December 2020

Guanase from Human Liver — Purification and Characterisation

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12 December 2020

Immunological identification and determination of xanthine oxidase in cells and tissues

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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

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12 December 2020

Purine transport and metabolism in man: the effect of exercise on concentrations of purine bases, nucleosides and nucleotides in plasma, urine, leucocytes and erythrocytes

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12 December 2020

Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome

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12 December 2020

Free amino acids and related compounds in biopsies of human brain

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12 December 2020

THE STUDY OF PURINE UTILIZATION AND EXCRETION IN A XANTHINURIC MAN

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12 December 2020

Plasma uric acid levels in children

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12 December 2020

Isocratic analysis of 3-methoxy-4-hydroxyphenyl glycol, 5-hydroxyindole-3-acetic acid and 4-hydroxy-3-methoxyphenylacetic acid in cerebrospinal fluid by high-performance liquid chromatography with amperometric detection

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12 December 2020

Use of 3,5-dichloro-2-hydroxybenzenesulfonic acid/4-aminophenazone chromogenic system in direct enzymic assay of uric acid in serum and urine

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12 December 2020

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

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12 December 2020

Xanthine phosphoribosyltransferase in man: Relationship to hypoxanthine-guanine phosphoribosyltransferase

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12 December 2020

Creatinine clearance: a redundant clinical investigation

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12 December 2020

Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities

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12 December 2020

Physiological roles for adenosine and adenosine 5′-triphosphate in the nervous system

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12 December 2020

A screening test for hyperuricosuria

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

Uric acid, xanthine and hypoxanthine in the cerebrospinal fluid

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12 December 2020

Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01800365

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9 February 2018

PubMed ID

3148065

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9 February 2018