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2 resultsUpdated October 20, 2026

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1

Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran

Orphanet Journal of Rare Diseases 21(1) (2026)

Maryam Nasri; Nejat Mahdieh; Farzaneh Abbasi; Reihaneh Mohsenipour; Saeideh Abdolahpour

2

Development, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants

International Journal of Neonatal Screening 11(1) (2025)

Azam Khodadadi; Saber Nanbedeh; Mahsa Joodaki; Bradford L. Therrell; Kambiz Gilany