Associated Papers
Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.
Chen Y et al.
Frontiers in Genetics, 2024
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
Musumeci O et al.
Neuromuscular Disorders : Nmd, 2012
[Type VII glycogen storage disease].
Nakajima H et al.
Ryoikibetsu Shokogun Shirizu, 1998
Phosphofructokinase deficiency: recent advances in molecular biology.
Nakajima H et al.
Muscle & Nerve. Supplement, 1995
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