Inherited Aplastic Anaemia with Increased Endoreduplications: a New Syndrome or Fanconi's Anaemia Variant?

Generalised glucosephosphate isomerase (

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

✍ W. Schröter; S. W. Eber; A. Bardosi; M. Gahr; M. Gabriel; F. C. Sitzmann 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 997 KB

A new glucosephosphate isomerase (GPI) variant is described which is characterised by very low specific activity in erythrocytes, granulocytes and muscle tissue, nearly normal stability, normal kinetic properties and a decreased electrophoretic mobility. The propositus suffers from a complex syndrom