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gangliosidoses/phosphatase
L'enllaç es desa al porta-retalls
9 resultats
Immunological properties of N-acetyl-beta-D-glucosaminidase of normal human liver and of GM2-gangliosidosis liver.
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Antisera were raised to a partially purified preparation of human liver hexosaminidase and to highly purified preparations of hexosaminidase isoenzymes A and B. All the antisera precipitated the enzyme in an enzymically active form, which could be located on immunodiffusion and immunoelectrophoretic
Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis.
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The authors report a case of unsuspected fetal storage disorder initially diagnosed by placental examination performed because of a transient ascites at 28 weeks of gestation. At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase
Alkaline Phosphatase Activity Induction in Human Spleen Sinuses in Storage Diseases.
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Human splenic sinuses were observed for the induction of alkaline phosphatase (AP) activity in mucopolysaccharidoses of type I and II, in GM1 gangliosidosis, and in Niemann-Pick's disease, type A. A substantially lower degree of activity was found in Sanfillipo's disease, type A, and in hemosiderin
Gaucher-like cells in juvenile GM1-gangliosidosis and in beta-thalassemia -- A histochemical and ultrastructural observation.
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Peculiar storage cells appearing in bone marrow aspirates from a patient with juvenile GM1-gangliosidosis and from one with beta-thalassemia were examined light microscopically, histochemically and electron microscopically. Light microscopically, most of the storage cells closely resembled Gaucher
An in vitro model for abnormal skeletal development in the lysosomal storage diseases.
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Lysosomal storage diseases such as GM1-gangliosidosis are associated with skeletal abnormalities. Radiological and histological studies, both in human and corresponding animal models, indicate retarded bone formation. Since cartilage maturation leads to bone formation, we developed an in vitro
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
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Tay-Sachs disease (TSD, GM2 gangliosidosis, Type I) is an autosomal recessive lysosomal storage disease caused by deficiency of beta-hexosaminidase A (Hex A) resulting from mutations in the gene (HEXA) encoding the alpha-subunit of the enzyme. Three mutations, in exons 7 and 11 and at the exon
Plasma acid hydrolases in normal adults and children, and in patients with some lysosomal storage diseases.
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Optimal assay conditions are described for plasma alpha-galactosidase, beta-glactosidase, beta-glucuronidase, alpha-mannosidase, alpha-glucosidase, N-acetyl-beta-glucosaminidase, alpha-fucosidase, N-acetyl-alpha-glucosaminidase, acid phosphatase and arylsulphatase A. The levels of these activities
Enzymes in amniotic fluid.
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The determination of enzyme levels in cell-free amniotic fluid has proven useful in assessing fetal maturity and fetal well being, and is being utilized for the prenatal diagnosis of genetic disorders. The activities of amylase, alpha-galactosidase, phosphatidic acid phosphohydrolase, lysozyme and
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
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For the purpose of evaluating electron microscopy of tissue culture in making the diagnosis of sphingolipidoses, an ultrastructural study was made on the cultured fibroblasts from 23 patients with the disorders. The characteristic cytoplasmic inclusions were observed in the cultured cells of Fabry
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