107 Result(s)
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E Kleihauer
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Thalassemia intermedia: compound heterozygous β∘/β+-thalassemia and co-inherited heterozygous α+-thalassemia
The relative excess of α- over β-globin chains in the erythroid precursors is the chief pathophysiological factor of homozygous β-thalassemia. The clinical picture is usually characterized by a transfusion-dep...
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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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Buchbesprechung
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HLA-haploidentical bone marrow transplantation in three infants with adenosine deaminase deficiency: Stable immunological reconstitution and reversal of skeletal abnormalities
Three infants with severe combined immunodeficiency and adenosine deaminase (ADA) deficiency were treated by T-cell depleted bone marrow transplantation (BMT), using human leukocyte antigen (HLA)-haploidentica...
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Undetectable IgG4 in immunoprecipitation: association with repeated infections in children?
A total of 210 patients with repeated infections were screened for IgG4 deficiency. In 30 patients (14%) IgG4 was undetectable by radial immunodiffusion (<30 mg/l). Of these patients 17 (57%) were less than 2 ...
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Severe combined immunodeficiency: treatment by bone marrow transplantation in 15 infants using HLA-haploidentical donors
In 15 infants with severe combined immunodeficiency (SCID), immunological reconstitution was attempted by bone marrow transplantation (BMT) from HLA-haploidentical parents. To prevent graft versus host disease...
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The place of intravenous immunoglobulin (IgG i.v.) therapy in thrombocytopenia
Acute ITP following infection in children has a high rate of spontaneous remission. Since the platelet count is not uncommonly profoundly depressed, ITP is associated with a mortality of around 1%. The aim of ...
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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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Hemoglobin Köln: Analysis of linkage relationships between the mutant gene and polymorphic restriction sites in the β-globin gene cluster
Nuclear DNA has been analyzed by means of restriction endonuclease map** procedure to identify chromosomes that carry mutant Hb Köln β-globin genes in a family with individuals heterozygous for this disease....
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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 ...
