Liver involvement in urea cycle disorders: a review of the literature

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(2017)   Experimental and Clinical Transplantation

AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice

(2017) Lili Wang et al.   MOLECULAR GENETICS AND METABOLISM

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

(2017) Susanne Nettesheim et al.   Orphanet Journal of Rare Diseases

NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study

(2016) Wei Wen et al.   BMC Medical Genetics

Phenylbutyrate exerts adverse effects on liver regeneration and amino acid concentrations in partially hepatectomized rats

(2016) Milan Holecek et al.   INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY

Nutrient-sensing mTORC1: Integration of metabolic and autophagic signals

(2016) Valerie P. Tan et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Ammonia toxicity: from head to toe?

(2016) Srinivasan Dasarathy et al.   METABOLIC BRAIN DISEASE

Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm

(2016) Claudia I. Chapuy et al.   ONCOLOGIST

Citrulline for urea cycle disorders in Japan

(2016) Kenichi Tanaka et al.   PEDIATRICS INTERNATIONAL

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

(2016) Alexander Laemmle et al.   PLoS One

Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations

(2015) Jiandi Gao et al.   AMERICAN JOURNAL OF EMERGENCY MEDICINE

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

(2015) A. Schlune et al.   AMINO ACIDS

Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARα

(2015) Michiharu Komatsu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

(2015) Ayano Inui et al.   HEPATOLOGY RESEARCH

Arginase 2 deficiency results in spontaneous steatohepatitis: A novel link between innate immune activation and hepatic de novo lipogenesis

(2015) Laura A. Navarro et al.   JOURNAL OF HEPATOLOGY

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years

(2015) Peter Burgard et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

(2015) Diego Martinelli et al.   Orphanet Journal of Rare Diseases

Experimental nonalcoholic steatohepatitis compromises ureagenesis, an essential hepatic metabolic function

(2014) Karen Louise Thomsen et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

TATI as a biomarker

(2014) Outi Itkonen et al.   CLINICA CHIMICA ACTA

Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency

(2014) Renata C. Gallagher et al.   JOURNAL OF PEDIATRICS

A longitudinal study of urea cycle disorders

(2014) Mark L. Batshaw et al.   MOLECULAR GENETICS AND METABOLISM

Acute Hepatic Decompensation Precipitated by Pregnancy-Related Catabolic Stress

(2014) Marie Sinclair et al.   OBSTETRICS AND GYNECOLOGY

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

(2014) Elena Martín-Hernández et al.   Orphanet Journal of Rare Diseases

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis

(2014) Hencher HC Lee et al.   HONG KONG MEDICAL JOURNAL

At the intersection of toxicology, psychiatry, and genetics: a diagnosis of ornithine transcarbamylase deficiency

(2013) Harold Andrew Sloas et al.   AMERICAN JOURNAL OF EMERGENCY MEDICINE

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

(2013) Corinne M. Rüegger et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Histopathological findings in livers of patients with urea cycle disorders

(2013) Joy Yaplito-Lee et al.   MOLECULAR GENETICS AND METABOLISM

The incidence of urea cycle disorders

(2013) Marshall L. Summar et al.   MOLECULAR GENETICS AND METABOLISM

An 18-Year-Old Woman With a 15-cm Liver Mass and an Ammonia Level of 342

(2012) Jana G. Hashash et al.   GASTROENTEROLOGY

Argininosuccinate lyase deficiency

(2012) Sandesh C.S. Nagamani et al.   GENETICS IN MEDICINE

Ammonia toxicity to the brain

(2012) Olivier Braissant et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

(2012) Sandesh C.S. Nagamani et al.   MOLECULAR GENETICS AND METABOLISM

Suggested guidelines for the diagnosis and management of urea cycle disorders

(2012) Johannes Häberle et al.   Orphanet Journal of Rare Diseases

Arginase Deficiency With New Phenotype and a Novel Mutation: Contemporary Summary

(2012) Jane Pui Ki Tsang et al.   PEDIATRIC NEUROLOGY

Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism

(2011) Ayelet Erez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma

(2011) Kuei-Wen Chang et al.   MOLECULAR GENETICS AND METABOLISM

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency

(2011) James M. Wilson et al.   MOLECULAR GENETICS AND METABOLISM

Ornithine Transcarbamylase Deficiency Presenting as Hepatitis

(2011) Paul L. Aronson et al.   PEDIATRIC EMERGENCY CARE

Prenatal Diagnosis of Citrin Deficiency in a Chinese Family with a Fatal Proband

(2011) Xin-Jing Zhao et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency

(2010) Akihiko Kimura et al.   HEPATOLOGY RESEARCH

Recurrent liver failure in a 25-year-old female

(2010) Jefrey Salek et al.   LIVER TRANSPLANTATION

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

(2010) S. Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

Transient fulminant liver failure as an initial presentation in citrullinemia type I

(2010) Hannaneh Faghfoury et al.   MOLECULAR GENETICS AND METABOLISM

Non-alcoholic fatty liver disease proteomics

(2010) Eva Rodríguez-Suárez et al.   Proteomics Clinical Applications

Hyperammonemic Encephalopathy: A Rare Presentation of Fibrolamellar Hepatocellular Carcinoma

(2009) Saurabh Sethi et al.   AMERICAN JOURNAL OF THE MEDICAL SCIENCES

Identification of novel mutations in theSLC25A15gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

(2009) Alessandra Tessa et al.   HUMAN MUTATION

Adult Onset Urea Cycle Disorder in a Patient With Presumed Hepatic Encephalopathy

(2009) Muslim Atiq et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Primary Liver Carcinoma Exhibiting Dual Hepatocellular-Biliary Epithelial Differentiations Associated With Citrin Deficiency

(2009) Junpei Soeda et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening

(2009) R. L. Edwards et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

(2009) T. Hutchin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Early-onset hyperargininaemia: A severe disorder?

(2009) M. Schiff et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH) Presenting With Acute Fulminant Hepatic Failure

(2009) AA Mhanni et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period

(2009) Hironori Nagasaka et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) C. Ficicioglu et al.   MOLECULAR GENETICS AND METABOLISM

High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure

(2009) Ulrike Teufel et al.   PEDIATRIC TRANSPLANTATION

Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor

(2009) Takanobu Shigeta et al.   PEDIATRIC TRANSPLANTATION

Hereditary urea cycle diseases in Finland

(2008) Päivi Keskinen et al.   ACTA PAEDIATRICA

Diseases caused by defects of mitochondrial carriers: A review

(2008) Ferdinando Palmieri   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

(2008) Michiharu Komatsu et al.   JOURNAL OF HEPATOLOGY

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

(2008) Mendel Tuchman et al.   MOLECULAR GENETICS AND METABOLISM

Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis

(2007) Zuhair N. Al-Hassnan et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES