1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.
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Suggested guidelines for the diagnosis and management of urea cycle disordersPatterns of brain injury in inborn errors of metabolismAdvances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013Brain imaging in urea cycle disordersIn Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults.Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencyNew frontiers in neuroimaging applications to inborn errors of metabolism.Urea cycle disorders: brain MRI and neurological outcome.Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency.Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: an fMRI study.Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.Urea cycle defects and hyperammonemia: effects on functional imaging.Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase DeficiencyImproving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders ConsortiumOrnithine transcarbamylase deficiency presenting with acute reversible cortical blindness.
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P2860
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 26 July 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
1H MRS identifies symptomatic ...... e transcarbamylase deficiency.
@en
1H MRS identifies symptomatic ...... e transcarbamylase deficiency.
@nl
type
label
1H MRS identifies symptomatic ...... e transcarbamylase deficiency.
@en
1H MRS identifies symptomatic ...... e transcarbamylase deficiency.
@nl
prefLabel
1H MRS identifies symptomatic ...... e transcarbamylase deficiency.
@en
1H MRS identifies symptomatic ...... e transcarbamylase deficiency.
@nl
P2093
P2860
P1476
1H MRS identifies symptomatic ...... e transcarbamylase deficiency.
@en
P2093
A L Gropman
J van Meter
R McCarter
R R Seltzer
S T Fricke
P2860
P356
10.1016/J.YMGME.2008.06.003
P577
2008-07-26T00:00:00Z