Genetic Errors of Glycoprotein Metabolism

Buch | Softcover

XVI, 220 Seiten

2012 | 1. Softcover reprint of the original 1st ed. 1982
Springer Berlin (Verlag)
978-3-642-51584-2 (ISBN)

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On starting to write the preface it occured to the editors that it might be a good idea to incorporate so me organizational thoughts. First of all, why have. we organized this book on "Glycoprotein storage diseases", an unfamiliar area of pathology unlikely to be encountered in practice? In preparing such a volume we considered that in the past ten years there has been a large amount of intensive research activity on glycoproteinoses and no detailed review has been entirely devoted to this subject. This research has led to new information about hereditary mental retardation and progressive neurologie degeneration, and as clinicians we are impressed with its clinical importance. This volume is intended to represent for the uninitiated as weH as for the expert a summary of studies on dis orders of glycoprotein catabolism written by experts in each area. Each author has written with freedom about his particular experience, describing the establishment and development of his investigations, his methods, the utility and limitations of his work and eventual sources of problems. We are grateful for their many fundamental studies and for their having generously accepted to partecipate in this book. The Editors Acknowledgements We wish to express our gratitude to our friends and colleagues G. Romeo, W.S. Sly and G. Tettamanti whose criticism and suggestions have significantly improved the quality of particular chapters or sections.

to glycoprotein storage diseases.- General introduction.- Historical review.- to glycoprotein metabolism.- Differential diagnosis of glycoproteinoses.- Carrier detection.- Prenatal diagnosis.- The chromosomal localization of the mutant genes.- Selected references.- 2 Sialidosis.- Clinical phenotypes.- Genetics.- Nature of the storage compounds.- The nature of the neuraminidase defect.- Effect of the neuraminidase defect on the other lysosomal hydrolases.- Neuraminidase deficiency in other disorders.- Methods for diagnosis.- References.- 3 Fucosidosis.- Clinical description.- Incidence and genetics.- Pathology.- The enzymatic defect.- Properties of normal human ?-L-fucosidase.- Properties of ?-L-fucosidase in fucosidosis.- 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.- Laboratory diagnosis of fucosidosis.- Detection of carriers.- Prenatal diagnosis.- Animal model of the disease.- ?-D-fucosidase.- References.- 4 Mannosidosis.- Clinical symptomatology.- Genetic studies.- Histochemistry and ultrastructure.- Nature of the storage material.- Enzymology.- Diagnosis.- Detection of carriers.- Prenatal diagnosis.- Animal models.- References.- 5 Aspartylglucosaminuria.- Clinical features.- Biochemistry.- Diagnosis.- Pathology.- Epidemiology.- Carrier detection.- Prenatal diagnosis.- References.- 6 Gm1 Gangliosidosis and Sandhoff disease.- and general comments.- Gm1 Gangliosidosis.- Sandhoff disease.- References.- 7 Salla disease.- Clinical features.- 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.

Erscheint lt. Verlag	14.5.2012
Zusatzinfo	XVI, 220 p. 39 illus.
Verlagsort	Berlin
Sprache	englisch
Maße	170 x 244 mm
Gewicht	421 g
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete
	Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Schlagworte	Erbkrankheit • Errors • Glykoproteinose • Metabolic disease
ISBN-10	3-642-51584-3 / 3642515843
ISBN-13	978-3-642-51584-2 / 9783642515842
Zustand	Neuware