Authors

Jozef L. Hertecant

Publications 1

Research article Open access

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates

Aisha Alshamsi, Jozef L. Hertecant, Sania Souid et al. · Sultan Qaboos University Medical Journal · 2025 · 10.18295/2075-0528.1545

Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal storage diseases [LSD]) at Tawam Hospital Metabolic Center in Abu …

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