(Q35722056)

9 August 2017

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title

Cognitive outcome in urea cycle disorders (English)

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9 August 2017

Andrea L Gropman

1

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9 August 2017

Mark L Batshaw

series ordinal

2

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9 August 2017

publication date

1 April 2004

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Molecular Genetics and Metabolism

9 August 2017

published in

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9 August 2017

volume

81 Suppl 1

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9 August 2017

page(s)

S58-62

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Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus

9 August 2017

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1 reference

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Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies

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Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan

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Long-term outcome of patients with urea cycle disorders and the question of neonatal screening

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Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

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Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

7 January 2021

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Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

7 January 2021

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Ammonium-induced impairment of axonal growth is prevented through glial creatine.

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Mechanisms of hyperammonemia

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Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat

7 January 2021

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Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency

7 January 2021

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Increase of Tryptophan and 5-Hydroxyindole Acetic Acid in the Brain of Ornithine Carbamoyltransferase Deficient Sparse-Fur Mice

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency

7 January 2021

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7 January 2021

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7 January 2021

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A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain

7 January 2021

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Ornithine transcarbamylase deficiency presenting with strokelike episodes

7 January 2021

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Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency

7 January 2021

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Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

7 January 2021

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

7 January 2021

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Natural history of symptomatic partial ornithine transcarbamylase deficiency

7 January 2021

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Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

7 January 2021

1 reference

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

7 January 2021

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Long-term treatment of girls with ornithine transcarbamylase deficiency

7 January 2021

1 reference

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The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.

7 January 2021

1 reference

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In vivo nitrogen metabolism in ornithine transcarbamylase deficiency

7 January 2021

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In vivo measurement of ureagenesis with stable isotopes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.016

Cognitive development in children with inborn errors of urea synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.016

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2003.11.016

1 reference

9 August 2017

1 reference