Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.
Maines E et al.
Journal of Diabetes and Metabolic Disorders, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 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
Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance.
Úbeda F et al.
Diseases (basel, Switzerland), 2024
Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population.
Liu X et al.
Ginekologia Polska, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
An Infant With Hereditary Fructose Intolerance and a Novel Presentation of Disseminated Intravascular Coagulopathy Following Pyloromyotomy.
Aldag E et al.
Journal of Pediatric Hematology/oncology, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang M et al.
Orphanet Journal of Rare Diseases, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ et al.
Nature Communications, 2022
Hereditary fructose intolerance: A comprehensive review.
Singh SK et al.
World Journal of Clinical Pediatrics, 2022
Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption.
Taneva I et al.
Bmc Gastroenterology, 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
Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.
Gunduz M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Hereditary Fructose Intolerance Diagnosed in Adulthood.
Kim MS et al.
Gut and Liver, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
Rosenblum LS et al.
Journal of Genetic Counseling, 2020
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.
Di Dato F et al.
Nutrients, 2019
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3' untranslated region of the aldolase B gene.
Morales-Alvarez MC et al.
Sage Open Medical Case Reports, 2019
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
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
Molecular characterization of metastatic exon 11 mutant gastrointestinal stromal tumors (GIST) beyond KIT/PDGFRα genotype evaluated by next generation sequencing (NGS).
Saponara M et al.
Oncotarget, 2015
Hereditary fructose intolerance in Brazilian patients.
Valadares ER et al.
Molecular Genetics and Metabolism Reports, 2015
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
Schrodi SJ et al.
Human Genetics, 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
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
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 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
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
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.
Caciotti A et al.
European Journal of Gastroenterology & Hepatology, 2008
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.
Adamowicz M et al.
Journal of Inherited Metabolic Disease, 2007
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