Associated Papers
Identification of Novel Mutations in Chinese Infants With Citrullinemia.
Cheng Z et al.
Frontiers in Genetics, 2022
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Y et al.
Journal of Inherited Metabolic Disease, 2020
SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations.
Radha Rama Devi A et al.
Gene, 2018
Molecular genetics of citrullinemia types I and II.
Woo HI et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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