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Lysosomal storage diseases : early diagnosis and new treatments /

Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Parini, Rossella, Andria, Generoso
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Montrouge : John Libbey Eurotext, [2010]
Colección:Mariani Foundation paediatric neurology series ; 23.
Temas:
Acceso en línea:Texto completo

MARC

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245 0 0 |a Lysosomal storage diseases :  |b early diagnosis and new treatments /  |c edited by Rossella Parini and Generoso Andria. 
264 1 |a Montrouge :  |b John Libbey Eurotext,  |c [2010] 
264 4 |c ©2010 
300 |a 1 online resource (195 pages) :  |b illustrations 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
338 |a online resource  |b cr  |2 rdacarrier 
490 1 |a Mariani Foundation paediatric neurology series,  |x 0969-0301 ;  |v 23 
504 |a Includes bibliographical references. 
588 0 |a Online resource; title from PDF title page (ebrary, viewed February 17, 2014). 
505 0 |a Lysosomal Storage Diseases Early Diagnosis and New Treatments; Contents; General aspects; Chapter 1 Lysosomal storage disorders: commonalities and differences; Chapter 2 Lysosomal storage disorders-epidemiology, biochemistry, and genetics: how to read and interpret biochemical and molecular tests; Chapter 3 Organizational and ethical aspects of newborn screening for lysosomal storage diseases; Chapter 4 Pathophysiologic aspects of lysosomal storage disorders; Clinical presentations in detail: Mucopolysaccharidoses and Anderson-Fabry disease. 
505 8 |a Chapter 5 Early signs and symptoms for the timely diagnosis of mucopolysaccharidosisChapter 6 Anderson-Fabry disease in children; Mucopolysaccharidoses from the specialists' point of view; Chapter 7 Epilepsy in mucopolysaccharidosis: clinical features and outcome; Chapter 8 Psychological assessment and support for patients with mucopolysaccharidosis; Chapter 9 Mucopolysaccharidosis: radiologic findings; Chapter 10 Anaesthesia for children with mucopolysaccharidosis; Chapter 11 Neurosurgical complications and their management in mucopolysaccharidosis. 
505 8 |a Specific treatments for lysosomal storage diseasesChapter 12 Enzyme replacement therapy in lysosomal storage disorders: clinical effects and limitations; Chapter 13 Gaucher disease: clinical follow-up and management with individualized treatment; Chapter 14 Enzyme replacement therapy in glycogenosis type II; Chapter 15 Haematopoietic stem cell transplantation for lysosomal storage diseases; Chapter 16 Allogeneic stem cell transplantation for Hurler syndrome: graft outcome and long-term clinical outcomes; Chapter 17 Haematopoietic stem cell gene therapy for metachromatic leukodystrophy. 
546 |a English. 
590 |a eBooks on EBSCOhost  |b EBSCO eBook Subscription Academic Collection - Worldwide 
650 0 |a Lysosomal storage diseases  |x Diagnosis. 
650 0 |a Lysosomal storage diseases  |x Treatment. 
650 6 |a Maladies lysosomiales congénitales  |x Traitement. 
650 7 |a HEALTH & FITNESS  |x Diseases  |x General.  |2 bisacsh 
650 7 |a MEDICAL  |x Clinical Medicine.  |2 bisacsh 
650 7 |a MEDICAL  |x Diseases.  |2 bisacsh 
650 7 |a MEDICAL  |x Evidence-Based Medicine.  |2 bisacsh 
650 7 |a MEDICAL  |x Internal Medicine.  |2 bisacsh 
650 7 |a Lysosomal storage diseases  |x Treatment  |2 fast 
700 1 |a Parini, Rossella. 
700 1 |a Andria, Generoso. 
776 |z 2-7420-0779-2 
830 0 |a Mariani Foundation paediatric neurology series ;  |v 23.  |x 0969-0301 
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