Associated Papers
Genomic sequencing enhances metabolic newborn screening in Thailand.
Kuptanon C et al.
Clinical Biochemistry, 2026
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze U et al.
Journal of Inherited Metabolic Disease, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.
Ding S et al.
Frontiers in Genetics, 2022
Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review.
Liu X et al.
Frontiers in Neurology, 2022
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze U et al.
Journal of Inherited Metabolic Disease, 2021
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Couce ML et al.
Journal of Human Genetics, 2017
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
Al-Shamsi A et al.
Sultan Qaboos University Medical Journal, 2014
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
Hertecant JL et al.
European Journal of Medical Genetics, 2012
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