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About this product
- PublisherSpringer-Verlag New York Inc.
- Date of Publication27/12/2011
- GenreMedicine: General
- Series TitleNATO Science Series A
- Series Part/Volume Number150
- Place of PublicationNew York, NY
- Country of PublicationUnited States
- ImprintSpringer-Verlag New York Inc.
- Content Notebiography
- Weight1451 g
- Width170 mm
- Height244 mm
- Spine43 mm
- Edited byL. Douste-Blazy,R. Salvayre,Shimon Gatt
- Edition StatementSoftcover reprint of the original 1st ed. 1988
- Table Of ContentsLysosomal Storage Diseases.- Beta-glucosidases and Gaucher diseases.- The medical importance of the research on lipid storage diseases with a historical review on the advances in Gaucher disease.- The molecular biology of Gaucher disease.- Characterization of the normal human glucocerebrosidase genes and a mutated form in Gaucher's patient.- Molecular biology of Gaucher disease: therapeutic strategies utilizing recombinant DNA technology.- Molecular properties of lysosomal glucocerebrosidase.- Comparison of human membrane-bound beta-glucosidases: lysosomal glucosylceramide-beta-glucosidase and non-specific beta-glucosidase.- Beta-glucocerebrosidase: mechanistic studies with covalent and non-covalent inhibitors.- Comparison of the acidic lipid requirement of control and type 1 Gaucher's disease liver and brain glucocerebrosidases.- Heterogeneity in human acid beta-glucosidase with cellulose-acetate electrophoresis.- Etiology of a new identified Gaucher disease variant without glucosylceramidase defect.- Type 3 Gaucher disease : clinical and biological heterogeneity.- Parkinsonian symptomatology in a patient with type I (adult) Gaucher disease.- Sphingomyelinase and Niemann-Pick types A and B.- Acid sphingomyelinase from human urine: purification and characterisation.- Lysosomal sphingomyelinase: patients with Niemann-Pick disease have normal amounts of sphingomyelinase polypeptide.- Sphingomyelin storage in lymphoid cell lines from patients with Niemann-Pick disease types A, B and C: influence of culture conditions.- Turnover of docosahexaenoic acid in bis(monoacylglycero)phosphate induced in Niemann-Pick fibroblasts by incubation in presence of excess fatty acid.- Heterogeneity and special features of the storage process in Niemann-Pick disease.- Family with profound sphingomyelinase deficiency resisting closer subclassification.- Adult Niemann-Pick disease with psychiatric involvement.- Niemann-Pick disease types C and D.- Niemann-Pick disease type C: a lesion in intracellular cholesterol transport.- Pathophysiological approach of Niemann-Pick disease type C: definition of a biochemical heterogeneity and reevaluation of the lipid storage process.- Increase in sterol synthesis and decrease in cholesterol efflux in Niemann-Pick disease type C fibroblasts.- Abnormal cholesterol metabolism in primary brain cultures of the lysosomal cholesterol storage disorder (LCSD) murine mutant.- Studies on lysosomal storage diseases in cell culture: Niemann-Pick disease type D.- Beta-hexosaminidases and GM2-gangliosidoses.- Molecular genetics of beta-N-acetyl hexosaminidase alpha subunit mutations.- The molecular biology of beta-hexosaminidase: localization of the proteolytic processing and carbohydrate containing sites.- GM2-ganliosidosis: B1 variant with thermostable beta-hexosaminidase A and molecular analysis of the mutant enzyme.- Diagnosis of hexosaminidase A deficiency with sulphated substrate: evidence for an alpha-locus genetic compound in a Tay-Sachs variant.- Clinical and neurophysiological changes in carriers from a family with type O chronic GM2-gangliosidosis with ALS phenotype.- Other lysosomal enzymes and storage diseases.- Immunochemical studies of cerebroside sulphatase.- Correlation between degradation of sulfatide in cultured skin fibroblasts and residual arylsulfatase A activity.- Biochemical and ultrastructural studies of a fetus with arylsulfatase A deficiency.- Galactosylsphingosine in murine and human tissues of normal and globoid cell leukodystrophy cases.- Histoenzymological study of one case of Fabry disease before and after transplantation.- Alpha-L-fiicosidase: on the specificity of the two forms of normal human sera and their possible relationship to fucosidosis.- Molecular characterization of mutations causing fucosidosis in Italy.- Human placental sialidase: substrate specificity, molecular size and purification.- Metabolism of extracellular triacylglycerols (from lipoproteins) in a Wolman lymphoid cell line.-
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