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EBSCO_ocn874162727 |
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OCoLC |
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20231017213018.0 |
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|a 904253040
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|a 1259206646
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|b L97 2010eb
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|a 616.042
|2 22
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|a UAMI
|
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
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300 |
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|a 1 online resource (195 pages) :
|b illustrations
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336 |
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|a text
|b txt
|2 rdacontent
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|a computer
|b c
|2 rdamedia
|
338 |
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|a online resource
|b cr
|2 rdacarrier
|
490 |
1 |
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|a Mariani Foundation paediatric neurology series,
|x 0969-0301 ;
|v 23
|
504 |
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|a Includes bibliographical references.
|
588 |
0 |
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|a Online resource; title from PDF title page (ebrary, viewed February 17, 2014).
|
505 |
0 |
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|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 |
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|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.
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505 |
8 |
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|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.
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546 |
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|a English.
|
590 |
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|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
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650 |
|
7 |
|a MEDICAL
|x Diseases.
|2 bisacsh
|
650 |
|
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|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 |
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|a Andria, Generoso.
|
776 |
|
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|z 2-7420-0779-2
|
830 |
|
0 |
|a Mariani Foundation paediatric neurology series ;
|v 23.
|x 0969-0301
|
856 |
4 |
0 |
|u https://ebsco.uam.elogim.com/login.aspx?direct=true&scope=site&db=nlebk&AN=779051
|z Texto completo
|
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|a BATCHLOAD
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|a EBL - Ebook Library
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