Search Results - "KLIBANSKY, C"
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Genetic heterogeneity in Gaucher disease
Published in Journal of medical genetics (01-08-1986)“…Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild form, a severe form, and a…”
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Sphingomyelinase activity levels in human peripheral blood leukocytes, using [3H]sphingomyelin as substrate: study of heterozygotes and homozygotes for Niemann-Pick disease variants
Published in Clinica chimica acta (16-05-1978)“…Patients and heterozygous carriers of Niemann-Pick disease types A and B as well as the primary (genetic) sea-blue histiocyte syndrome were investigated for…”
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Chemical and biochemical studies in human fetuses affected with Niemann-Pick disease type A
Published in Clinica chimica acta (01-02-1979)“…Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week…”
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Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates
Published in Clinica chimica acta (16-05-1978)“…Prenatal diagnosis has been successfully achieved by enzyme assays in cultured amniocytes in three high risk pregnancies for Gaucher's disease and three for…”
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Clinical and biochemical study of a child with the non-neuronopathic-Type B form of Niemann-Pick disease
Published in European journal of pediatrics (18-05-1979)“…A child with Niemann-Pick disease type B, diagnosed at the age of two years and followed up for three years is described. Despite extensive visceral…”
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Gaucher's disease, type I (chronic nonneuronopathic, adult)
Published in הרפואה (01-09-1974)Get more information
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Gangliosidoses: primary disorders of ganglioside metabolism
Published in הרפואה (15-09-1971)Get more information
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Phospholipase B activity of a purified phospholipase A from Vipera palestinae venom
Published in Journal of lipid research (01-05-1973)“…Phospholipase was isolated (in two fractions) from Vipera palestinae venom and it was shown to possess phospholipase A activity (hydrolyzing…”
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Effects of detergents and choline-containing phospholipids on human spleen glucocerebrosidase
Published in Biochimica et biophysica acta (22-04-1976)“…1. Glucocerebrosidase, extracted from human spleen lysosomal membrane by sodium cholate and recovered in a high speed centrifugation supernatant, aggregated…”
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Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease
Published in European journal of clinical investigation (01-08-1978)“…Deficient leucocyte sphingomyelinase activity has been demonstrated in a patient with the sea-blue histiocyte syndrome. Family studies revealed that two other…”
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Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease
Published in Israel journal of medical sciences (01-12-1976)“…The findings of Factor XI (plasma thromboplastin antecedent) deficiency in a patient with Gaucher's disease was investigated. A family study, which included…”
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Quantitative study of erythrocyte-lysolecithin interaction
Published in Biochimica et biophysica acta (23-04-1963)Get more information
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JUVENILE AMAUROTIC IDIOCY. CLINICAL, HISTOCHEMICAL AND BRAIN LIPIDS INVESTIGATION
Published in Confinia neurologica (1964)Get more information
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Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews
Published in American journal of medical genetics (01-07-1987)“…In this study we estimate the frequency of carriers of chronic (type I) Gaucher disease among Ashkenazi Jews by examining the glucocerebrosidase activity in…”
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Proceedings: Some properties of human spleen glucocerebroside-beta-glucosidase
Published in Israel journal of medical sciences (01-11-1975)Get more information
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LIPID-LADEN HISTIOCYTES IN THE SPLEEN IN THROMBOCYTOPENIC PURPURA
Published in American journal of clinical pathology (01-01-1965)Get more information
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Action of Newcastle disease virus on human blood platelets
Published in Thrombosis et diathesis haemorrhagica (01-01-1966)Get more information
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New studies in GM2 gangliosidoses
Published in הרפואה (01-10-1975)Get more information
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