Glycogen Storage Disease Type Vii - Catalysis

Relevant Publications

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.

Issue Release: 2024

Hepatocyte-specific glucose-6-phosphatase deficiency disturbs platelet aggregation and decreases blood monocytes upon fasting-induced hypoglycemia.

Issue Release: 2021

Update on polyglucosan storage diseases.

Issue Release: 2019

Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations.

Issue Release: 2015

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

Issue Release: 2011

Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis.

Issue Release: 2009

Glycogen storage diseases: new perspectives.

Issue Release: 2007

Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui\'s Disease).

Issue Release: 2007

Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.

Issue Release: 2006

Increased levels of hemostatic proteins are independent of inflammation in glycogen storage disease type Ia.

Issue Release: 2003

Acute renal failure in a patient with phosphofructokinase deficiency.

Issue Release: 2003

[Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui\'s disease)].

Issue Release: 2001

Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.

Issue Release: 2000

[Type VII glycogen storage disease].

Issue Release: 1998

Muscle phosphofructokinase deficiency in two generations.

Issue Release: 1996

Glucose infusion paradoxically accelerates degradation of adenine nucleotide in working muscle of patients with glycogen storage disease type VII.

Issue Release: 1995

Developmental changes of 6-phosphofructo-1-kinase subunit levels in erythrocytes from normal dogs and dogs affected by glycogen storage disease type VII.

Issue Release: 1992

Presence of a truncated M-type subunit and altered kinetic properties of 6-phosphofructo-1-kinase isozymes in the brain of a dog affected by glycogen storage disease type VII.

Issue Release: 1991

Polysaccharide storage myopathy in canine phosphofructokinase deficiency (type VII glycogen storage disease).

Issue Release: 1990

Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.

Issue Release: 1987

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