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The spectrum of CFTR mutations in south-west German cystic fibrosis patients
The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 110 cystic fibrosis (CF) patients from the south-west of Germany was screened for 12 different mutations. This analysis resulted in an ide...
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Knochenmarktransplantation bei Panmyelopathie, akuter Leukämie und chronisch myeloischer Leukämie: Ergebnisse der „Ulmer Transplantationsgruppe“
From 1972–1983 53 patients underwent bone marrow transplantation. The median age was 18 years (3–41). 27 patients suffered from severe aplastic anaemia, 22 patients had acute leukaemia and 4 patients had chron...
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Hb M Milwaukee: Direct detection of the β-globin gene mutation in three generations of an afflicted family
Chromosomal DNA from three individuals with familial hemoglobin M (Hb M) Milwaukee was studied by restriction endonuclease analysis. The segregation of the mutant β-globin gene could be followed through three ...
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DNA restriction map** identifies the chromosome carrying the mutant Hb Presbyterian β-globin gene
Restriction endonuclease map** of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian β-globin genes in a family with individuals heterozygous for this disease. The prese...
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Critical analysis of granulocyte function in 154 patients with different diseases
Several granulocyte functions were analyzed in vitro in 154 patients with chronic or recurrent infections, as well as in a variety of disorders known or suspected to affect host resistance. Only a few specific...
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Abnormality of erythrocyte membrane protein in a case of congenital stomatocytosis
Mit einer neuen Methode zur Analyse von Membranproteinen gelang der Nachweis einer Membranproteinanomalie in den Erythrozyten eines Patienten mit congenitaler Stomatozytose; einer chronischen hämolytischen Anä...
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Impairment of granulocyte function in juvenile diabetes
Bei 10 Kindern mit Diabetes wurde die Funktion der Granulocyten getestet. Zum Zeitpunkt der Untersuchung waren die Patienten schlecht eingestellt. Fünf Kinder wurden nach Korrektur der Insulindosis und der Diä...
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Granulocytendysfunktion
In the first part we reviewed both the molecular basis of granulocyte function and the inborn defects. The present chapter summarizes our knowledge of the secondary defects of chemotaxis, opsonisation, phagocy...
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Granulocytendysfunktion
The insight in the function and dysfunction of granulocytes lately arouses more and more interest. This report summarises our present knowledge. In the first of two chapters the authors review the molecular ba...
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Beziehungen zwischen Polyglobulie und Hämoglobinmuster bei Neugeborenen mit G Trisomie
The concentrations of haemoglobin A1, A2 and F were determined quantitatively by column chromatography in 11 newborns with G-trisomy (Down's Syndrome) and correlated to haematocrit values. In 3 infants the haemog...
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Häufigkeit und Formen von anomalen Hämoglobinen und Thalassämie-Syndromen in der deutschen Bevölkerung
In the past eleven years 5763 blood samples from German individuals with different hematological disorders have been investigated by means of hemoglobin analysis. Thalssemia syndromes were found in 510 patient...
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Die Pathophysiologie der Struktur- und Funktionsvarianten des Hämoglobins
Function and properties of the human hemoglobin are closely correlated to the architecture of the molecule. The advanced knowledge of the stereochemistry permits to explain the relationships between structure,...
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Hb Tübingen. Eine neueβ-Kettenvariante (β Tp 10–12) mit erhöhter Spontanoxydation
Hemoglobin Tübingen, a newβ-chain variant (β Tp 10–12) was discovered in two members out of seven of a German family. The abnormal hemoglobin is characterized by increased spontaneous oxidation, heat instability,...
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Relativer Glutahion- und/oder Pyruvatkinasemangel in den Erythrocyten bei Panmyelopathien und akuten Leukämien
Relative deficiencies of glutathione reductase and/or pyruvate kinase were observed in the red cells of 10 of 11 patients showing various pancytopenias. Data obtained in the course of the disease suggest the p...
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HbM Hamburg, eine β-Ketten-Anomalie: α2β 63 Tyr 2 (=HbM Saskatoon)
In einer norddeutschen Familie, die cyanotische Individuen in 3 Generationen aufweist, wurde HbM als Ursache der Cyanose festgestellt. Ein Kind konnte von Geburt an beobachtet werden; es entwickelte erst im Ab...
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Embryonale Hämoglobine
Die vonHuehns u. Mitarb. genauer beschriebenen embryonalen Blutfarbstoffe Gower 1 und Gower 2 ließen sich im Hämolysat des Blutes einer 5,5 cm langen menschlichen Frucht durch die Stärkegelelektrophorese nachweis...
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Thalassaemia major in Deutschland
Thalassaemia minor tritt sporadisch in der Bevölkerung Deutschlands auf. 1941 wurde auf Grund klinischer Befunde der erste Fall von Thalassaemia major bei einem deutschen Patienten beschrieben. In der vorliege...