| Description |
1 online resource (195 pages) : illustrations |
| Series |
Mariani Foundation paediatric neurology series, 0969-0301 ; 23 |
|
Mariani Foundation paediatric neurology series ; 23. 0969-0301
|
| Contents |
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 |
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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 |
|
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 |
| Bibliography |
Includes bibliographical references |
| Notes |
English |
|
Online resource; title from PDF title page (ebrary, viewed February 17, 2014) |
| Subject |
Lysosomal storage diseases -- Diagnosis
|
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Lysosomal storage diseases -- Treatment
|
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Lysosomal storage diseases -- Treatment
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| Form |
Electronic book
|
| Author |
Parini, Rossella
|
|
Andria, Generoso
|
| ISBN |
9782742013432 |
|
2742013431 |
|
