Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Molecular Genetics and Metabolism

• Publication date

  2011-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ymgme.2011.06.025PMID 21802329PMCID PMC3171515
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations.

  2011influential reference
• Regulation of nitric oxide production in health and disease

  2010cited by this paper
• Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia.

  2010cited by this paper
• Clinical practice

  2010cited by this paper
• Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

  2010cited by this paper
• Early-onset hyperargininaemia: A severe disorder?

  2009cited by this paper
• Neuroimaging Findings in Hyperargininemia

  2008cited by this paper
• Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

  2008influential reference
• Orotic acid excretion and arginine metabolism.

  2007cited by this paper
• Packed red blood cell-associated arginine depletion is mediated by arginase.

  2007influential reference
• Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency

  2006cited by this paper
• Hyperargininemia due to liver arginase deficiency.

  2005influential reference
• Distribution and properties of arginase in the salivary glands of four species of laboratory mammals

  2004cited by this paper
• A neuroimaging approach to inborn errors of metabolism.

  2004cited by this paper
• The role of liver transplantation in urea cycle disorders.

  2004cited by this paper
• Arginases I and II: do their functions overlap?

  2004cited by this paper
• Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

  2003cited by this paper
• Liver transplantation in a case of argininaemia

  2001cited by this paper
• Glutamine as a pathogenic factor in hepatic encephalopathy

  2001cited by this paper
• Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis.

  1997cited by this paper
• Argininemia: A Treatable Genetic Cause of Progressive Spastic Diplegia Simulating Cerebral Palsy: Case Reports and Literature Review

  1997cited by this paper
• Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme

  1993cited by this paper
• Guanidino compounds in uraemic dialysed patients.

  1986cited by this paper
• A new case of arginase deficiency in a Spanish male

  1986cited by this paper
• Urinary pyrimidine excretion in arginase deficiency

  1981cited by this paper
• Fine structural localization of glutamine synthetase in astrocytes of rat brain.

  1979cited by this paper
• Hyperargininemia with Arginase Deficiency

  1979cited by this paper
• Argininemia.

  1977cited by this paper

• Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris

  2026cites this paper
• Perioperative Management of a Patient With Arginase 1 Deficiency Undergoing a Liver Transplant: A Case Report.

  2025cites this paper
• Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease

  2024cites this paper
• Quo vadis ureagenesis disorders? A journey from 90 years ago into the future

  2024cites this paper
• Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report

  2023cites this paper
• ARG1-expressing microglia show a distinct molecular signature and modulate postnatal development and function of the mouse brain

  2023cites this paper
• Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.

  2023cites this paper
• Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.

  2022cites this paper
• The role and control of arginine levels in arginase 1 deficiency

  2022cites this paper
• Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia

  2022cites this paper
• Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort

  2022cites this paper
• Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder

  2022cites this paper
• Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency

  2022cites this paper
• A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus.

  2022cites this paper
• The role of C-terminal helix in the conformational transition of an arginine binding protein

  2022cites this paper
• Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children

  2022cites this paper
• Virtual Screening for FDA-Approved Drugs That Selectively Inhibit Arginase Type 1 and 2

  2022cites this paper
• Case series of Arginase 1 deficiency: Expanding the spectrum in hyperargininemia.

  2021cites this paper
• Current status of surviving patients with arginase 1 deficiency in Japan

  2021cites this paper
• Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue

  2021cites this paper
• Arg1+ microglia are critical for shaping cognition in female mice

  2021cites this paper
• A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia

  2020cites this paper
• T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: an under-recognised subtype of paediatric acute encephalopathy syndromes.

  2020cites this paper
• A new metabolic disorder in human cationic amino acid transporter‐2 that mimics arginase 1 deficiency in newborn screening

  2019cites this paper
• Arginase Deficiency Presenting as Acute Encephalopathy

  2019cites this paper
• Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

  2019cites this paper
• Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

  2018cites this paper
• Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD)

  2018cites this paper
• Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia

  2018cites this paper
• A Case of Hyperargininaemia Presenting at Unusually Low Age.

  2017cites this paper
• Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.

  2017cites this paper
• [Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

  2017cites this paper
• "Cerebral Palsy" in a Patient With Arginase Deficiency.

  2017cites this paper
• Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells

  2016cites this paper
• Investigating Nucleotide Deficiency-Based Genomic Instability and CRISPR/Cas9-mediated Genomic Addition for the Therapeutic Applications of Human Induced Pluripotent Stem Cells

  2016cites this paper
• Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy

  2015cites this paper
• Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

  2015cites this paper
• Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.

  2015cites this paper
• Inherited disorders leading to hyperammonemia in children

  2015cites this paper
• Arginase-1 deficiency

  2015cites this paper
• Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring

  2014cites this paper
• Minimal Ureagenesis is Necessary for Survival in the Murine Model of Hyperargininemia Treated by AAV-based Gene Therapy

  2014cites this paper
• Brain MRI and Magnetic Resonance Spectroscopy Findings in Patients with Hyperargininemia

  2014cites this paper
• Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice.

  2014cites this paper
• Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.

  2014cites this paper
• Five novel mutations in ARG1 gene in Chinese patients of argininemia.

  2013cites this paper
• Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.

  2013cites this paper
• Neonatal neuroimaging findings in inborn errors of metabolism

  2013cites this paper
• Amino acid transport in thermophiles: characterization of an arginine-binding protein from Thermotoga maritima. 3. Conformational dynamics and stability.

  2013cites this paper
• AAV-based Gene Therapy Prevents Neuropathology and Results in Normal Cognitive Development in the Hyperargininemic Mouse

  2013cites this paper
• Periplasmic Binding Proteins in Thermophiles: Characterization and Potential Application of an Arginine-Binding Protein from Thermotoga maritima: A Brief Thermo-Story

  2013cites this paper
• Molecular diagnosis of urea cycle disorders: current global scenario.

  2013cites this paper
• Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy.

  2012cites this paper
• Statistical Models of the Protein Fitness Landscape: Applications to Protein Evolution and Engineering

  2012cites this paper
• Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

  2012influential citation
• SCHEMA-designed variants of human Arginase I and II reveal sequence elements important to stability and catalysis.

  2012cites this paper
• Clinical features and neurologic progression of hyperargininemia.

  2012cites this paper
• Thoroughly modern medicine.

  2011cites this paper