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Glycogen storage disease due to muscle phosphofructokinase deficiency
Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
Fetal akinesia sequence
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
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PMID (PMCID)
7794557
MALE
Infant, Newborn
Fetal akinesia sequence caused by glycogenosis type VII.
Moerman P, Lammens M, Fryns JP, Lemmens F, Lauweryns JM.
Genet Couns. 1995;6(1):15-20.
Fetal akinesia sequence
caused by
glycogenosis type VII
.
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