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Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.

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Title: Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.
Authors: Ijaz, Aamir1 (AUTHOR), Abbas, Seyyedha1 (AUTHOR) syedhabia@gmail.com, Shabbir, Maria2 (AUTHOR) mshabbir@asab.nust.edu.pk, Badshah, Yasmin2 (AUTHOR) yasmeenb_1982@yahoo.com, Abid, Fizzah2 (AUTHOR) fabid.phdabs21asab@student.nust.edu.pk, Afsar, Tayyaba3 (AUTHOR), Razak, Suhail3 (AUTHOR) smarazi@ksu.edu.sa
Source: Orphanet Journal of Rare Diseases. 8/11/2025, Vol. 20 Issue 1, p1-12. 12p.
Database: Academic Search Ultimate
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ISSN:17501172
DOI:10.1186/s13023-025-03979-8