M. Scharnetzky

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Double heterozygosity of pyruvate kinase (PK) deficiency associated with hereditary hemolytic anemia is emphasized by studies of a kindred harboring two distinct mutant forms of this enzyme. The hematologically unaffected parents exhibit slightly reduced PK activity, a normal Hill coefficient, and a normal thermodynamic dissociation constant for the overall(More)
The influence of temperature, K+, Mg2+ and fructose 1,6-bisphosphate on human red cell pyruvate kinase was investigated. Kinetic measurements between 4 degrees C and 43 degrees C revealed a remarkable influence of the temperature on the allosteric behaviour of the enzyme. Below a transition region between 15 degrees C and 20 degrees C (as obtained from an(More)
The typical cerebellar atrophy of ataxia-telangiectasia could clearly be recognized in a 9-year-old girl with clinical, immunologic and chromosomal findings of this disease by computerized cranial tomography. The study revealed more morphological details than could be expected from pneumoencephalography performed in the patient without result at the age of(More)
gamma-chain heterogeneity of haemoglobin F was studied in German full-term and preterm infants up to 12 months old. The A gamma T-gene frequency calculated was about 19%. In most cases with A gamma I-/A gamma T-chain heterogeneity A gamma I-chains predominated over A gamma T-chains. There was no difference between infants with or without the A gamma T-chain(More)
Hereditary pancreatitis was diagnosed in dystrophic boy at the age of 2 1/2 years after recurring episodes of severe abdominal pain. Extensive left-sided pleural effusions caused surgical exploration. Pancreatography showed typical dilation of the pancreatic ductal system. After hemipancreatectomy by the boy recovered very fast. Characteristic features in(More)
After remittent fever for several weeks a two-year old girl developed a severe hypochromic microcytic anaemia, rapidly increasing splenomegaly and extensive leftsided pleural effusions. After splenectomy the girl recovered very fast. Elevation of erythrocyte sedimentation rate, sideropenia and microcytosis needed several months for normalisation.(More)
Investigations on the activity and the kinetic behavior of red cell pyruvate kinase in the erythrocyte membrane and hemolysate of 6 patients with pyruvate kinase (PK) deficiency are presented and compared with those of normal individuals. Hemolysate: The PK in the hemolysate of normal individuals showed the well-known allosteric properties, reflected by(More)
γ-chain heterogeneity of haemoglobin F was studied in German full-term and preterm infants up to 12 months old. The AγT-gene frequency calculated was about 19%. In most cases with AγI-/AγT-chain heterogeneity AγI-chains predominated over AγT-chains. There was no difference between infants with or without the AγT-chain concerning haemoglobin F-concentration,(More)