Cognitive outcome in urea cycle disorders (Q35722056)

9 August 2017

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title

Cognitive outcome in urea cycle disorders (English)

1 reference

9 August 2017

Andrea L Gropman

1

1 reference

PubMed ID

15050975

9 August 2017

Mark L Batshaw

series ordinal

2

1 reference

9 August 2017

1 April 2004

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Molecular Genetics and Metabolism

9 August 2017

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9 August 2017

81 Suppl 1

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9 August 2017

S58-62

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

9 August 2017

1 reference

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

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

7 January 2021

1 reference

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

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

7 January 2021

1 reference

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

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

7 January 2021

1 reference

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

Effects of hyperammonaemia on brain function

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Mechanisms of hyperammonemia

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Quinolinic acid in children with congenital hyperammonemia

7 January 2021

1 reference

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

Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse.

7 January 2021

1 reference

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

Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria

7 January 2021

1 reference

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

Behavior management of feeding disturbances in urea cycle and organic acid disorders

7 January 2021

1 reference

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

Loss of [3H]MK801 binding sites in brain in congenital ornithine transcarbamylase deficiency

7 January 2021

1 reference

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

7 January 2021

1 reference

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

Late onset ornithine carbamoyl transferase deficiency in males

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Ornithine transcarbamylase deficiency: neuropathologic changes acquired in utero.

7 January 2021

1 reference

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

Prospective treatment of urea cycle disorders.

7 January 2021

1 reference

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

Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Ornithine transcarbamylase deficiency presenting with strokelike episodes

7 January 2021

1 reference

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

Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency

7 January 2021

1 reference

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

Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Natural history of symptomatic partial ornithine transcarbamylase deficiency.

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Long-term treatment of girls with ornithine transcarbamylase deficiency

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

In vivo nitrogen metabolism in ornithine transcarbamylase deficiency

7 January 2021

1 reference

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

In vivo measurement of ureagenesis with stable isotopes

7 January 2021

1 reference

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

PubMed ID

15050975