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phosphofructokinase deficiency
Sign in to saveAlso known as glycogen storage disease type VII, Tarui's disease, glycogen storage disease VII, Glycogen storage disease, type VII (disorder), Muscle phosphofructokinase deficiency (disorder), phosphofructokinase myopathy, Glycogen storage disease, type VII, Muscle phosphofructokinase deficiency
Human disease
In the Vinony graph
Within Vinony's link graph, phosphofructokinase deficiency is referenced by 70 other articles, and connects out to dog, mammal and carbohydrate.
Vinony files it under Autosomal recessive disorders and Inborn errors of carbohydrate metabolism.
Its subject is documented across 10 Wikipedia language editions.
Research
533 papers- Phosphofructokinase deficiency; past, present and future.Current molecular medicine · 2002
- Mitapivat for phosphofructokinase deficiency.American journal of hematology · 2024
- Phosphofructokinase deficiency: recent advances in molecular biology.Muscle & nerve. Supplement · 1995
- The glycolytic enzyme PFKFB3 drives kidney fibrosis through promoting histone lactylation-mediated NF-κB family activation.Kidney international · 2024
- Role of PFKFB3-driven glycolysis in vessel sprouting.Cell · 2013
via PubMed
Wikidata facts
- Instance of
- symptom or sign
- Subclass of
- disease
- Image
- Glycogen Buildup.jpeg
Show 7 more facts
- health specialty
- endocrinology
- ICPC 2 ID
- T99
- Commons category
- Phosphofructokinase deficiency
- NCI Thesaurus ID
- C118437
- exact match
- www.orpha.net/ORDO/Orphanet_371
- external data available at URL
- www.nanbyou.or.jp/entry/4711
- on focus list of Wikimedia project
- WikiProject Medicine
via Wikidata · CC0
Connections
dog
Entity
mammal
Entity
carbohydrate
Entity
enzyme
Entity
glucose
Entity
red blood cell
Entity
anemia
Entity
digital object identifier
Entity
mutation
Entity
sucrose
Entity
keto-D-fructose
Entity
adenosine triphosphate
Entity
endocrinology
Entity
lysosome
Entity
glycolytic process
Entity
glycogen
Entity
monosaccharide
Entity
International Statistical Classification of Diseases and Related Health Problems
Entity
PubMed
Entity
tricarboxylic acid cycle
Entity