(Q28210605)

1

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Hiroki Morizono

2

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Maria Gracia Panglao

3

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Sabrina F Cheng

4

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Seymour Packman

5

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Mendel Tuchman

https://scigraph.springernature.com/pub.10.1007/s00439-003-0909-5

6

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language of work or name

English

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publication date

April 2003

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published in

Human Genetics

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volume

112

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page(s)

364-8

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issue

4

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exact match

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cites work

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Identification, cloning and expression of the mouse N-acetylglutamate synthase gene

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Ammonia Intoxication in Rats: Protection by N -Carbamoyl-L-Glutamate Plus L-Arginine

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Cloning and expression of the human N-acetylglutamate synthase gene

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N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment

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Purification of carbamyl phosphate synthetase from frog liver.

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Late-onset form of partial N-acetylglutamate synthetase deficiency

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N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication

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Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications

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Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate

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A mechanism for valproate-induced hyperammonemia

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Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.

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N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy

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N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

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Control of ureogenesis

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N ‐acetylglutamate synthetase deficiency: Clinical and laboratory observations

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N-acetylglutamate synthetase deficiency, a second patient

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Role of acetylglutamate in ureotelism. I. Occurrence and biosynthesis of acetylglutamate in mouse and rat tissues

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Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia

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N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication

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Purification and properties of acetyl-CoA:L-glutamate N-acetyltransferase from human liver

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A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate

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N-Acetylglutamate synthetase deficiency responding to carbamylglutamate

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Purification of N-acetyl-L-glutamate synthetase from rat liver mitochondria and substrate and activator specificity of the enzyme.

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Catalytic rôle of of glutamate derivatives in citrulline biosynthesis

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Isolation and characterization of a naturally occurring cofactor of carbamyl phosphate biosynthesis

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Partial N-acetyl-glutamate synthetase deficiency masquerading as a valproic acid-induced Reye-like syndrome

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Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders

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