Published in Hum Mutat on March 01, 2009
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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies. BMC Genomics (2014) 1.04
A genome-wide approach identifies that the aspartate metabolism pathway contributes to asparaginase sensitivity. Leukemia (2010) 1.03
Argininosuccinate synthase conditions the response to acute and chronic ethanol-induced liver injury in mice. Hepatology (2012) 1.00
Expanded newborn screening: reducing harm, assessing benefit. J Inherit Metab Dis (2010) 0.93
Leishmania donovani argininosuccinate synthase is an active enzyme associated with parasite pathogenesis. PLoS Negl Trop Dis (2012) 0.89
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Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. Am J Pathol (2010) 0.87
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility. Eur J Hum Genet (2014) 0.86
Arginase I gene single-nucleotide polymorphism is associated with decreased risk of pulmonary hypertension in bronchopulmonary dysplasia. Acta Paediatr (2014) 0.84
Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. J Pediatr (2012) 0.83
A metabolic synthetic lethal strategy with arginine deprivation and chloroquine leads to cell death in ASS1-deficient sarcomas. Cell Death Dis (2016) 0.83
Argininosuccinate synthetase 1 depletion produces a metabolic state conducive to herpes simplex virus 1 infection. Proc Natl Acad Sci U S A (2013) 0.81
Argininosuccinate synthetase regulates hepatic AMPK linking protein catabolism and ureagenesis to hepatic lipid metabolism. Proc Natl Acad Sci U S A (2016) 0.78
The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia. Obstet Gynecol Sci (2014) 0.75
Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency. JIMD Rep (2011) 0.75
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection. JIMD Rep (2012) 0.75
Genetic Manipulation of Leishmania donovani to Explore the Involvement of Argininosuccinate Synthase in Oxidative Stress Management. PLoS Negl Trop Dis (2016) 0.75
Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives. Patient Prefer Adherence (2017) 0.75
Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency. Stem Cell Res Ther (2017) 0.75
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med (2005) 3.24
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet (2009) 1.55
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. J Inherit Metab Dis (2011) 1.44
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A (2004) 1.42
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood (2002) 1.16
Transient fulminant liver failure as an initial presentation in citrullinemia type I. Mol Genet Metab (2010) 1.15
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. PLoS One (2007) 1.15
Neonatal screening for citrullinaemia. Eur J Pediatr (2003) 1.08
Animal models of inflammatory bowel disease: an overview. Pathobiology (2003) 1.03
A twin-arginine translocation (Tat)-mediated phage display system. Gene (2005) 0.98
Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab Dis (2014) 0.98
Structure of a hybrid squash inhibitor in complex with porcine pancreatic elastase at 1.8 A resolution. Acta Crystallogr D Biol Crystallogr (2003) 0.97
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet (2002) 0.97
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet (2013) 0.95
Structural basis for catalytic activity and enzyme polymerization of phospholipid hydroperoxide glutathione peroxidase-4 (GPx4). Biochemistry (2007) 0.94
Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test. J Pediatr (2005) 0.93
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. J Inherit Metab Dis (2011) 0.93
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab (2007) 0.91
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis (2013) 0.90
The structure of the anti-c-myc antibody 9E10 Fab fragment/epitope peptide complex reveals a novel binding mode dominated by the heavy chain hypervariable loops. Proteins (2008) 0.90
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Am J Med Genet A (2010) 0.90
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. J Child Neurol (2009) 0.88
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. Prenat Diagn (2006) 0.88
Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders. Clin Chem (2010) 0.88
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J Med Genet A (2012) 0.87
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochim Biophys Acta (2005) 0.87
Genetic basis of hyperlysinemia. Orphanet J Rare Dis (2013) 0.85
Investigation of citrullinemia type I variants by in vitro expression studies. Hum Mutat (2008) 0.84
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease. J Mol Med (Berl) (2010) 0.84
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Mol Genet Metab (2008) 0.83
Nasal Staphylococcus aureus carriage is not a risk factor for lower-airway infection in young cystic fibrosis patients. J Clin Microbiol (2007) 0.83
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur J Pediatr (2014) 0.83
HLA-DR alpha 2 mediates negative signalling via binding to Tirc7 leading to anti-inflammatory and apoptotic effects in lymphocytes in vitro and in vivo. PLoS One (2008) 0.82
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. J Inherit Metab Dis (2011) 0.82
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations. Am J Med Genet A (2011) 0.82
Insights into functional aspects of centrins from the structure of N-terminally extended mouse centrin 1. Vision Res (2006) 0.81
Determination of CFTR densities in erythrocyte plasma membranes using recognition imaging. Nanotechnology (2008) 0.81
Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples. J Inherit Metab Dis (2010) 0.81
Design and characterization of a hybrid miniprotein that specifically inhibits porcine pancreatic elastase. J Biol Chem (2003) 0.81
Physiological concept for a blood based CFTR test. Cell Physiol Biochem (2006) 0.80
Interaction of epitope-related and -unrelated peptides with anti-p24 (HIV-1) monoclonal antibody CB4-1 and its Fab fragment. J Mol Recognit (2003) 0.80
Crystallization and preliminary X-ray studies of mouse centrin1. Acta Crystallogr Sect F Struct Biol Cryst Commun (2005) 0.80
Crystallization and preliminary X-ray crystallographic analysis of the [NiFe]-hydrogenase maturation factor HypF1 from Ralstonia eutropha H16. Acta Crystallogr Sect F Struct Biol Cryst Commun (2010) 0.79
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum Genet (2015) 0.79
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. JIMD Rep (2015) 0.78
Citrin deficiency: A treatable cause of acute psychosis in adults. Neurol India (2015) 0.78
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Hum Mutat (2013) 0.78
Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1. Mol Genet Metab (2012) 0.78
Intellectual disability and hemizygous GPD2 mutation. Am J Med Genet A (2013) 0.77
Phage display screening for peptidic chitinase inhibitors. J Mol Recognit (2008) 0.77
Linker peptide and affinity tag for detection and purification of single-chain Fv fragments. Biotechniques (2004) 0.76
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. J Inherit Metab Dis (2015) 0.76
Engineering a circularly permuted GFP scaffold for peptide presentation. J Mol Recognit (2007) 0.76
First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period. Eur J Obstet Gynecol Reprod Biol (2009) 0.76
Structure of an anti-cholera toxin antibody Fab in complex with an epitope-derived D-peptide: a case of polyspecific recognition. J Mol Recognit (2007) 0.76
Defining the immunoreactive epitope for the monoclonal anti-human glutathione peroxidase-4 antibody anti-hGPx4 Mab63-1. Immunol Lett (2010) 0.76
Usefulness of magnetic resonance spectroscopy in urea cycle disorders. Pediatr Neurol (2007) 0.76
Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man. PLoS One (2015) 0.75
Molecular characterization of CPS1 deletions by array CGH. Mol Genet Metab (2010) 0.75
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. J Biol Chem (2013) 0.75
Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency. Hum Mutat (2003) 0.75
Complete substitutional analysis of a sunflower trypsin inhibitor with different serine proteases. J Biochem (2005) 0.75
Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe). Eur J Paediatr Neurol (2012) 0.75
Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol. Neuropediatrics (2012) 0.75