共 178 条
[1]
Caldovic L(2015)Genotype–phenotype correlations in ornithine transcarbamylase deficiency: a mutation update J Genet Genomics 42 181-194
[2]
Abdikarim I(2019)Adult presentation of ornithine transcarbamylase deficiency: 2 illustrative cases of phenotypic variability and literature review Neurohospitalist 9 30-36
[3]
Narain S(1984)Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase Science 224 1068-1074
[4]
Tuchman M(1997)The Ornithine Transcarbamylase (OTC) Gene: mutations in 50 Japanese families with OTC deficiency Am J Med Genet 71 378-383
[5]
Morizono H(2014)Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases Orphanet J Rare Dis 9 187-276
[6]
Pizzi MA(1996)Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families Hum Genet 97 274-1039
[7]
Alejos D(2018)Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency Virchows Arch 472 1029-381
[8]
Hasan TF(2018)The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency Gene 679 377-808
[9]
Atwal PS(2012)Diseases spectrum of metabolism disease of amino acid, organic acid and fatty acid oxidation in neonates J Clin Pediatr 30 805-1425
[10]
Krishnaiengar SR(2015)Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients Orphanet J Rare Dis 10 58-514