• Produktbild: Genetic Errors of Glycoprotein Metabolism
  • Produktbild: Genetic Errors of Glycoprotein Metabolism

Genetic Errors of Glycoprotein Metabolism

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Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

14.05.2012

Abbildungen

XVI, 39 illus., schwarz-weiss Illustrationen

Herausgeber

P. Durand + weitere

Verlag

Springer Berlin

Seitenzahl

220

Maße (L/B/H)

24,4/17/1,4 cm

Gewicht

422 g

Auflage

Softcover reprint of the original 1st ed. 1982

Sprache

Englisch

ISBN

978-3-642-51584-2

Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

14.05.2012

Abbildungen

XVI, 39 illus., schwarz-weiss Illustrationen

Herausgeber

Verlag

Springer Berlin

Seitenzahl

220

Maße (L/B/H)

24,4/17/1,4 cm

Gewicht

422 g

Auflage

Softcover reprint of the original 1st ed. 1982

Sprache

Englisch

ISBN

978-3-642-51584-2

Herstelleradresse

Springer-Verlag GmbH
Tiergartenstr. 17
69121 Heidelberg
DE

Email: GPSR Kontakt

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  • Produktbild: Genetic Errors of Glycoprotein Metabolism
  • Produktbild: Genetic Errors of Glycoprotein Metabolism
  • to glycoprotein storage diseases.- General introduction.- Historical review.- Fucosidosis.- Mannosidosis.- Aspartylglucosaminuria.- Sialidosis.- Glycoprotein storage in other lysosomal diseases.- to glycoprotein metabolism.- General criteria.- Biosynthesis of glycoproteins.- Catabolism of glycoproteins.- Processing and compartmentalization of lysosomal enzymes.- Differential diagnosis of glycoproteinoses.- Clinical assessment.- Neurological signs.- Ocular signs.- Extraneuronal signs.- Clinical and biochemical heterogeneity.- Racial and genetic considerations.- Preliminary laboratory tests.- Strategy for enzyme tests.- Histology and electron microscopy.- Carrier detection.- Prenatal diagnosis.- The chromosomal localization of the mutant genes.- Selected references.- 2 Sialidosis.- Clinical phenotypes.- Sialidosis type 1 - Normosomatic group.- Sialidosis type 2 - Dysmorphic group.- Genetics.- Nature of the storage compounds.- The nature of the neuraminidase defect.- Effect of the neuraminidase defect on the other lysosomal hydrolases.- ?-galactosidase deficiency.- Neuraminidase deficiency in other disorders.- Methods for diagnosis.- References.- 3 Fucosidosis.- Clinical description.- Fucosidosis type 1.- Laboratory data.- Fucosidosis type 2.- Laboratory data.- Atypical cases.- Incidence and genetics.- Pathology.- Autopsy findings.- Microscopic and ultrastructural changes.- Skin lesions.- Ocular lesions.- Brain lesions.- Liver lesions.- Other tissues.- The enzymatic defect.- Properties of normal human ?-L-fucosidase.- Multiple forms.- Kinetic and physical properties.- Substrate specificity.- Immunological studies.- ?-L-fucosidase uptake.- Properties of ?-L-fucosidase in fucosidosis.- Multiple forms.- Kinetic and physical properties.- Immunological studies.- Variant(s) of ?-L-fucosidase causing low serum and plasma activity.- Nature of the molecular defect in fucosidosis and in low-activity serum variant.- Precursors of the storage products in fucosidosis.- Storage material in fucosidosis.- Accumulation of blood group substances.- Urinary excretion of fucose-containing material.- Laboratory diagnosis of fucosidosis.- Enzymatic analysis.- Source of enzyme.- Enzyme assay.- Urine analysis.- Detection of carriers.- Prenatal diagnosis.- Animal model of the disease.- ?-D-fucosidase.- References.- 4 Mannosidosis.- Clinical symptomatology.- General problems.- Early development and onset of symptoms.- Mental retardation.- Motor functions.- Sensorineural hearing loss.- Facial features.- Skeletal changes.- Ocular changes.- Hepatomegaly and hepatosplenomegaly.- General health and physical growth.- Other clinical data.- Clinical heterogeneity.- Genetic studies.- Histochemistry and ultrastructure.- Nature of the storage material.- Enzymology.- Molecular weight and subunits.- Isoelectric point.- Separation of isoenzymes.- Immunological properties.- Substrates.- pH optimum.- Stability.- Activators and inhibitors.- Michaelis constant.- Enzyme dynamics.- Diagnosis.- Clinical.- Morphological.- Genetic.- Chemical.- Enzymic.- Definitive diagnosis.- Detection of carriers.- Prenatal diagnosis.- Animal models.- References.- 5 Aspartylglucosaminuria.- Clinical features.- Early History.- Early neurological manifestations.- Mental retardation and behaviour.- Motor symptoms and signs.- Characteristics of face and body.- Skeletal changes.- Disturbances of physical growth and endocrine functions.- Other clinical data.- Clinical course.- Biochemistry.- The N-acetylglucosaminyl-asparagine linkage.- Catabolism of glycoprotein and aspartylglucosaminidase.- Deficiency of AADGase in aspartylglucosaminuria.- Urinary excretion of products of glycoprotein catabolism.- Storage material.- Diagnosis.- Detection of AADG in urine.- Assay of AADGase.- Pathology.- Morphological changes in different organs.- Brain.- Liver.- Skin.- Lymphocytes.- Other tissues.- Cultured fibroblasts.- General pathological findings.- Clinicopathological correlations.- Epidemiology.- Carrier detection.- Prenatal diagnosis.- References.- 6 Gm1 Gangliosidosis and Sandhoff disease.- and general comments.- Gm1 Gangliosidosis.- Phenotypic descriptions.- The enzyme defect.- Chemistry of the storage products.- Properties of acidic and neutral ?-galactosidases and their involvement in Gm1 gangliosidosis.- Nature of the mutation in Gm1 gangliosidosis.- Explanation of Gm1 gangliosidosis phenotype.- Animal models.- Sandhoff disease.- Phenotypic description.- Enzyme defect in Sandhoff disease.- Chemistry of the storage products.- Properties of hexosaminidase A and B and their involvement in Sandhoff disease.- Nature of the mutation in Sandhoff disease.- Animal models.- References.- 7 Salla disease.- Clinical features.- Early history.- Physical findings.- Mental retardation.- Neurological findings.- Neurophysiological findings.- Biochemistry.- Lysosome morphology.- Genetics of Salla disease.- References.- 8 I-cell Disease and pseudo-Hurler polydystrophy.- Background.- I-cell disease.- Pseudo-Hurler polydystrophy.- Laboratory findings.- Pathology.- Storage substances.- Incidence and genetics.- Carrier detection.- Prenatal diagnosis.- The nature of the genetic defect.- References.- 9 Conclusions and speculations.