Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.
Çınar M et al.
Neuropediatrics, 2025
Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.
Alsharhan H et al.
International Journal of Neonatal Screening, 2025
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A et al.
Molecular Genetics and Metabolism Reports, 2020
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Hesse J et al.
Journal of Inherited Metabolic Disease, 2018
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
Hoffmann L et al.
Journal of Inherited Metabolic Disease, 2012
Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.
Eminoglu TF et al.
Forensic Science International, 2011
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.
Ezgu F et al.
Genetic Counseling (geneva, Switzerland), 2011
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