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4 resultsUpdated October 25, 2026
1

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2

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

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

4

Developing a rare disease registry for inherited metabolic disorders in Pakistan

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

Lena Jafri; Hafsa Majid; Sibtain Ahmed; Azeema Jamil; Saba Abdul Mateen; Akhtar Shah; Aysha Habib Khan