Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population.
Liu X et al.
Ginekologia Polska, 2024
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang M et al.
Orphanet Journal of Rare Diseases, 2022
36028839 (PubMed )
Supplement: 13023_2022_2487_MOESM1_ESM.xlsx › TableS1
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Epidemiological aspects of hereditary fructose intolerance: A database study.
Pinheiro FC et al.
Human Mutation, 2021
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.
Di Dato F et al.
Nutrients, 2019
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
Esposito G et al.
Human Mutation, 2010
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
Coffee EM et al.
Journal of Inherited Metabolic Disease, 2010
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
Coffee EM et al.
Journal of Inherited Metabolic Disease, 2010
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
Esposito G et al.
Human Mutation, 2004
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