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Author

Sharareh Kamfar

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3 papers indexed here

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Review Open access Aug 2026

Bronchiectasis in an Iranian patient with Rothmund–Thomson syndrome: a case report and review of the literature

Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive disorder with approximately 400 reported cases worldwide. While the syndrome typically presents with characteristic features, such as poikiloderma and skeletal abnormalities, respiratory manifestations are uncommonly reported, making this case a unique...

Seyed Ahmad Tabatabaii, Saba Ramezani, Sharareh Kamfar et al. · 0 citations
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
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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