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Author

P. Karimzadeh

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2 papers indexed here

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Review Open access Oct 2026

Whole-exome sequencing reveals the molecular diagnoses of pediatric patients presenting with hyperammonemia

Hyperammonemia (HA) is a life-threatening metabolic emergency with diverse genetic etiologies. While classical causes include the urea-cycle and organic acid disorders, the complete mutational spectrum remains incompletely defined. This study aimed to identify the underlying molecular diagnoses in pediatric patients pr...

Reza Hajati, Sharareh Kamfar, Azadeh Reshadmanesh et al. · 0 citations
Open access Oct 2026

Inherited metabolic disorder-related genes and mutation spectrum in Iranians: an 11-year analysis using next-generation sequencing and sanger sequencing

Inherited metabolic disorders (IMDs) are a heterogeneous group of rare diseases caused by genetic variants that disrupt key metabolic pathways. This retrospective study primarily aimed to characterize the molecular and genetic spectrum of IMD-related genes and assess the diagnostic yield of next-generation sequen...

Parnian Alagha, Negar Molaei, M. Beheshtian et al. · 0 citations

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