(Q28332113)

1

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E R Hauser

2

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C O Leonard

3

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S W Brusilow

The Journal of Pediatrics

4

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language of work or name

English

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publication date

December 1990

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published in

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volume

117

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issue

6

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page(s)

897-902

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cites work

Natural history of symptomatic partial ornithine transcarbamylase deficiency.

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Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

7 January 2021

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Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma

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Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase

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Ornithine transcarbamylase deficiency in a boy with normal development

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Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.

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Chronic benzoate therapy in a boy with partial ornithine transcarbamylase deficiency

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Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.

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Late onset ornithine carbamoyl transferase deficiency in males

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Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency

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Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern

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Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome

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Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women

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Simple method of measurement of orotic acid and orotidine in urine

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Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion

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Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

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False positive alanine tolerance test results in heterozygote detection of urea cycle disorders

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Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis

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