Published in Acta Paediatr Jpn on August 01, 1988
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab (2010) 2.07
Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders. Pediatr Res (2009) 1.55
Neurological implications of urea cycle disorders. J Inherit Metab Dis (2007) 1.36
A longitudinal study of urea cycle disorders. Mol Genet Metab (2014) 1.26
Hyperammonemia in review: pathophysiology, diagnosis, and treatment. Pediatr Nephrol (2011) 1.22
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab (2008) 1.15
Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol (2010) 0.96
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. Can J Neurol Sci (2013) 0.94
Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo. Glia (2008) 0.93
Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison. Am J Hum Genet (1995) 0.88
Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults. Radiology (2009) 0.87
Brain imaging in urea cycle disorders. Mol Genet Metab (2010) 0.86
Profiling of astrocyte properties in the hyperammonaemic brain: shedding new light on the pathophysiology of the brain damage in hyperammonaemia. J Inherit Metab Dis (2008) 0.82
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. Mol Genet Metab (2014) 0.82
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis (2016) 0.80
Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency. PLoS One (2015) 0.78
Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013. Mol Genet Metab (2014) 0.77
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. J Inherit Metab Dis (2015) 0.75
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. Orphanet J Rare Dis (2016) 0.75
Neurologic outcome of urea cycle disorder liver transplant recipients may be predicted by pretransplant neurological imaging. Pediatr Transplant (2015) 0.75
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study. Orphanet J Rare Dis (2016) 0.75
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr (1999) 2.38
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med (1982) 2.34
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N Engl J Med (1984) 2.25
Television-viewing habits and sleep disturbance in school children. Pediatrics (1999) 1.77
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet (1999) 1.71
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype. Am J Med Genet (2000) 1.71
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr (1986) 1.70
Parental and self-report of sleep in children with attention-deficit/hyperactivity disorder. Arch Pediatr Adolesc Med (2000) 1.63
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res (1985) 1.56
Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med (1980) 1.49
Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis. J Clin Invest (1984) 1.42
Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors. J Biol Chem (1996) 1.41
Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis. Science (1980) 1.33
Describing the phenotype in Rett syndrome using a population database. Arch Dis Child (2003) 1.33
Behavior management of feeding disturbances in urea cycle and organic acid disorders. J Pediatr (1987) 1.29
Cerebral palsy. Pediatr Clin North Am (1993) 1.16
Silent aspiration prominent in children with dysphagia. Int J Pediatr Otorhinolaryngol (1994) 1.11
Characteristics of dysphagia in children with cerebral palsy. Dysphagia (1994) 1.10
Long-term gene transfer to mouse fetuses with recombinant adenovirus and adeno-associated virus (AAV) vectors. Gene Ther (2000) 1.02
Functional status of school-aged children with Down syndrome. J Paediatr Child Health (2002) 1.02
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. J Pediatr (1988) 1.00
Munchausen's syndrome simulating torsion dystonia. N Engl J Med (1985) 0.99
New approaches to the diagnosis and treatment of inborn errors or urea synthesis. Pediatrics (1981) 0.99
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease. Clin Genet (1975) 0.97
Hyperammonemia. Curr Probl Pediatr (1984) 0.96
Long-term management of a case of carbamyl phosphate synthetase deficiency using ketanalogues and hydroxyanalogues of essential amino acids. Pediatrics (1976) 0.96
Development of a video-based evaluation tool in Rett syndrome. J Autism Dev Disord (2006) 0.95
Sustained correction of OTC deficiency in spf( ash) mice using optimized self-complementary AAV2/8 vectors. Gene Ther (2011) 0.95
Down syndrome. Pediatr Clin North Am (1993) 0.93
Cystic periventricular leukomalacia and type of cerebral palsy in preterm infants. J Pediatr (1994) 0.93
Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency. J Inherit Metab Dis (1998) 0.93
Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA. Gene Ther (2000) 0.92
Adenovirus-mediated in vivo gene transfer rapidly protects ornithine transcarbamylase-deficient mice from an ammonium challenge. Pediatr Res (1997) 0.92
Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J Pediatr (1980) 0.91
A case of glutaric acidemia type I: effect of riboflavin and carnitine. J Pediatr (1988) 0.91
Behavioral and neurotransmitter changes in the urease-infused rat: a model of congenital hyperammonemia. Pediatr Res (1986) 0.91
Treatment of urea cycle disorders. Enzyme (1987) 0.89
Long-term morbidity and management strategies of tracheal aspiration in adults with severe developmental disabilities. Am J Ment Retard (1994) 0.88
Hypoxemia during oral feeding of children with severe cerebral palsy. Dev Med Child Neurol (1993) 0.88
In vivo measurement of ureagenesis with stable isotopes. J Inherit Metab Dis (1998) 0.87
Neonatal hyperammonemic coma. Adv Pediatr (1982) 0.85
Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency. J Pediatr (1989) 0.85
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. J Pediatr (1986) 0.84
Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I. J Clin Invest (1987) 0.84
Differences in the human and mouse amino-terminal leader peptides of ornithine transcarbamylase affect mitochondrial import and efficacy of adenoviral vectors. Hum Gene Ther (2001) 0.83
Arginine-responsive asymptomatic hyperammonemia in the premature infant. J Pediatr (1984) 0.82
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse. Brain Res Dev Brain Res (1995) 0.82
Therapy of urea cycle enzymopathies: three case studies. Johns Hopkins Med J (1981) 0.82
Traumatic brain injury in children. Pediatr Clin North Am (1993) 0.82
Brain serotonin2 and serotonin1A receptors are altered in the congenitally hyperammonemic sparse fur mouse. J Neurochem (1992) 0.81
Hypoxemia during oral feedings in adults with dysphagia and severe neurological disabilities. Dysphagia (1993) 0.81
Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective. Disabil Rehabil (2001) 0.81
Unsuccessful treatment of phenylketonuria with tyrosine. J Pediatr (1981) 0.80
Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma. Pediatr Res (1980) 0.80
Asymptomatic hyperammonemia in low birthweight infants. Pediatr Res (1978) 0.80
Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis. Prog Clin Biol Res (1983) 0.80
Transient postnatal elevation of serotonin levels in mouse neocortex. Brain Res (1988) 0.79
Transient depletion of CD4 lymphocyte improves efficacy of repeated administration of recombinant adenovirus in the ornithine transcarbamylase deficient sparse fur mouse. Gene Ther (2000) 0.78
Arginine therapy of argininosuccinase deficiency. Lancet (1979) 0.78
Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet. J Pediatr (1984) 0.78
Multidisciplinary management of dystonia misdiagnosed as hysteria. Adv Neurol (1976) 0.78
Evidence of lack of toxicity of sodium phenylacetate and sodium benzoate in treating urea cycle enzymopathies. J Inherit Metab Dis (1981) 0.78
Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis (2002) 0.77
Behavioral deficits in rats with minimal cortical hypoplasia induced by methylazoxymethanol acetate. Pediatrics (1990) 0.77
Prospects for prenatal gene therapy in disorders causing mental retardation. Ment Retard Dev Disabil Res Rev (2001) 0.77
The vital role of saliva as a mechanical sealant for suckling in the rat. Physiol Behav (1970) 0.77
Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin. J Inherit Metab Dis (1984) 0.77
Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in Rett syndrome. Am J Med Genet Suppl (1986) 0.76
A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations. Am J Med Genet Suppl (1986) 0.76
Electrical stimulation of the cerebral visual system in man. Confin Neurol (1974) 0.76
Valproate-induced hyperammonemia. Ann Neurol (1982) 0.76
Screening for lethal genetic disease. Pediatrics (1982) 0.75
Torsion dystonia. Johns Hopkins Med J (1982) 0.75
Quinolinate in brain and cerebrospinal fluid in rat models of congenital hyperammonemia. Pediatr Res (1992) 0.75
Acquired epileptic aphasia. Diagnostic aspects of progressive language loss in preschool children. Clin Pediatr (Phila) (1986) 0.75
Management of heritable disorders of the urea cycle and of Refsum's and Fabry's diseases. Prog Clin Biol Res (1979) 0.75
The diagnosis of ornithine transcarbamylase deficiency. J Pediatr Gastroenterol Nutr (1985) 0.75
Inherited hyperammonemia: an algorithm for diagnosis. Hepatology (1988) 0.75
Neurologic outcome in premature infants with transient asymptomatic hyperammonemia. J Pediatr (1986) 0.75