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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 Sep 2026

Pro-inflammatory and autophagic pathways in lung cancer: dysregulation of key genes ADINR, C/EBPα, CHAST, ATG5, IL-1B, and DICER1-AS1

Purpose Lung cancer is the second most prevalent malignancy in both sexes and remains the leading cause of cancer-related mortality. This study aimed to evaluate the expression profile of selected Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) signaling-related genes and long non-coding RNAs (ln...

A. Sayad, Mahsa Mousazadeh, Mohammad Amin Hahem Nejad et al. · 0 citations
Review Open access Sep 2026

Hyperammonemia: a review of etiologies, whole-exome sequencing diagnosis, and Iranian case reports

This review aims to provide a comprehensive overview of inherited metabolic disorders associated with hyperammonemia and to evaluate the diagnostic role of whole-exome sequencing (WES), with particular attention to Iranian patient data.

Reza Hajati, Sharareh Kamfar, Reyhaneh Seyfi et al. · 0 citations

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