Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family

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Date

2025

Authors

Nazir, Zeeshan
Jelani, Musharraf
Wasif, Naveed
Alam, Fakhar

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Wissenschaftlicher Artikel

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Published in

Khyber Medical University journal : KMUJ, 2025

Abstract

Description

Faculties

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UKU. Institut für Humangenetik

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DFG Project uulm

EU Project uulm

Other projects uulm

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DOI external

10.35845/kmuj.2025.23808

DOI external

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DFG Project THU

EU Project THU

Other projects THU

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Keywords

Glycogen Storage Disease IB, GSD Ib, G6PT1, Irritable Bowel Syndrome, Neutropenia, Consanguineous, Consanguineous Marriage, Hepatomegaly, DDC 610 / Medicine & health