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
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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
22975760 (PubMed )
Supplement: gim2012114x1.pdf
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
Ferri L et al.
Jimd Reports, 2012
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
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.
Gruchota J et al.
Molecular Genetics and Metabolism, 2006
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer R et al.
Human Mutation, 2005
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
[Hereditary fructose intolerance: description of 2 cases with early onset].
Di Martino L et al.
La Pediatria, 1980
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