Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
Abstract Background Glycogen storage disease (GSD) type 0, VI and IX are inborn errors of metabolism involving hepatic glycogen synthesis and degradation. We performed a characterization of a large Italian cohort of 30 patients with GSD type 0a, VI, IXa, IXb and IXc. A retrospective evaluation of ge...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2022-07-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-022-02431-5 |