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)

Author:

Schr�ter W.,Eber S. W.,Bardosi A.,Gahr M.,Gabriel M.,Sitzmann F. C.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference19 articles.

1. Arnold H, Blume KG, Engelhardt R, L�hr GW (1973) Glucosephosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis. Blood 41:691?699

2. Arnold H, Blume KG, L�hr GW, Schr�ter W, Koch HH, Wonneberger B (1974) Glucosephosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). II. Purification and biochemical properties of the defective enzyme. Pediatr Res 8:26?30

3. Bardosi A, Eber SW, Roessmann U (1984) Ultrastructural and histochemical abnormalities of the skeletal muscle in a patient with a new variant (type Homburg) of glucosephosphate isomerase (GPI) deficiency. Clin Neuropathol 4:72?76

4. Beutler E (1978) Hemolytic anemia in disorders of red cell metabolism. Plenum Publishing Corp, New York

5. B�cher TH, Luh W, Pette D (1964) Einfache und zusammengesetzte optische Tests mit Pyridinnucleotiden. In: Hoppe-Seyler, Thierfelder (eds) Handbuch der physiologischen und pathologisch-chemischen Analyse. Springer-Verlag, Berlin, pp 291?339

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