Suggested guidelines for the diagnosis and management of urea cycle disorders - Wikidata - wikimedia - TriplyDB

Suggested guidelines for the diagnosis and management of urea cycle disorders

Suggested guidelines for the diagnosis and management of urea cycle disorders

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Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders Urea cycle disorders: a case report of a successful treatment with liver transplant and a literature review Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia HIV-1, methamphetamine and astrocytes at neuroinflammatory Crossroads Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation Pediatric liver transplantation for urea cycle disorders and organic acidemias: United Network for Organ Sharing data for 2002-2012.Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency Expanding the phenotype in argininosuccinic aciduria: need for new therapies.Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.Psychiatric adult-onset of urea cycle disorders: A case-series.A zebrafish model of hyperammonemia.Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan.Glutamine and hyperammonemic crises in patients with urea cycle disorders.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.Liver transplantation for metabolic liver disease: experience at a living donor dominant liver transplantation center.Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration.Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients Simple and inexpensive quantification of ammonia in whole blood.Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia Anesthetic experience of an adult male with citrullinemia type II: a case report.A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia Computational modeling to predict nitrogen balance during acute metabolic decompensation in patients with urea cycle disorders.Refeeding syndrome in a young woman with argininosuccinate lyase deficiency Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate.Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study Guidelines for acute management of hyperammonemia in the Middle East region.Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.

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Suggested guidelines for the diagnosis and management of urea cycle disorders

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2012 թվականի մայիսին հրատարակված գիտական հոդված

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2012年の論文

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Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl

A map of human genome variation from population-scale sequencing

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening

Health-related quality of life measurement in pediatric clinical practice: an appraisal and precept for future research and application

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Brain imaging in urea cycle disorders

Alternative pathway therapy for urea cycle disorders: twenty years later

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

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