Associated Papers
NBEA gene variant in a child with developmental disorder and epilepsy: a case report.
Huang X et al.
Frontiers in Neuroscience, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain.
Garbowski L et al.
Journal of Clinical Medicine, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang M et al.
Orphanet Journal of Rare Diseases, 2022
Hereditary fructose intolerance: A comprehensive review.
Singh SK et al.
World Journal of Clinical Pediatrics, 2022
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
Epidemiological aspects of hereditary fructose intolerance: A database study.
Pinheiro FC et al.
Human Mutation, 2021
Hereditary Fructose Intolerance Diagnosed in Adulthood.
Kim MS et al.
Gut and Liver, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.
Aguiar TFM et al.
Frontiers in Oncology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Hereditary fructose intolerance in Brazilian patients.
Valadares ER et al.
Molecular Genetics and Metabolism Reports, 2015
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
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 2008
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
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Alfares AA
International Journal of Health Sciences, 0