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Lysosomal Storage Disorders : Principles And Practice.
This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiolog...
| Clasificación: | Libro Electrónico |
|---|---|
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
World Scientific
2009.
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| Temas: | |
| Acceso en línea: | Texto completo |
MARC
| LEADER | 00000cam a2200000M 4500 | ||
|---|---|---|---|
| 001 | EBOOKCENTRAL_ocn729020061 | ||
| 003 | OCoLC | ||
| 005 | 20240329122006.0 | ||
| 006 | m o d | ||
| 007 | cr un|---uuuuu | ||
| 008 | 101115s2009 xx o 000 0 eng d | ||
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| 019 | |a 816581881 | ||
| 020 | |a 1282757911 | ||
| 020 | |a 9781282757912 | ||
| 029 | 1 | |a DEBBG |b BV044179389 | |
| 035 | |a (OCoLC)729020061 |z (OCoLC)816581881 | ||
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| 049 | |a UAMI | ||
| 245 | 0 | 0 | |a Lysosomal Storage Disorders : |b Principles And Practice. |
| 260 | |b World Scientific |c 2009. | ||
| 300 | |a 1 online resource (180) | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
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| 505 | 0 | |a Cover13; -- Contents -- Foreword -- Preface -- List of Abbreviations -- List of Figures -- Vignette -- 1. Introduction -- The Lysosome and Storage Defects -- Clinical Presentations and Diagnosis -- Screening and Genetic Counseling Issues -- References -- Vignette -- 2. Clinical Perspectives -- Manifesting Signs and Corresponding Diagnostic Entities -- Generalized: Non-immune hydrops fetalis -- Head, eyes, nose, ears and throat involvement -- Neurologic problems (Table 2.2) -- Cardiopulmonary problems -- Visceral problems -- Skeletal problems -- Summary -- References -- Vignette -- 3. Diagnostic Confirmation and Screening Protocols -- Points of note -- Diagnostic confirmation, including prenatal diagnosis -- Biochemical Testing -- Molecular Testing -- Specialized Testing and Other Considerations -- Screening Programs -- Issues Related to Genetic Counseling -- References -- Vignette -- 4. Assessment of Disease Burden and Assignment of Disease Severity -- Nervous system involvement -- Cardiopulmonary involvement -- Musculoskeletal involvement -- Disease Severity Scores -- Quality of Life Studies -- References -- Vignette -- 5. Pathophysiology and Biomarkers -- Morphological Observations and Biochemical Correlates -- 1. Neurotoxicity and aberrant inflammation -- 2. Activation of ER-stress response, oxidative stress and apoptosis -- 3. Autophagy and associated defects -- Miscellaneous Findings -- Biomarkers and Their Roles in Assignment of Disease Activity or Severity, and Changes in Patient Profile in Response to Therapy -- References -- Vignette -- 6. Current and Emerging Therapies -- Cellular Transplantation -- Biochemical and Molecular Observations -- Enzyme Replacement Therapy (ERT) -- Substrate Reduction Therapy (SRT) -- Substrate Depletion or Modulation Therapy -- Chaperone-Mediated Enzyme Enhancement Therapy -- Gene Therapy -- Palliative Care -- Organ Transplantation -- Adjunctive Therapies -- Further Points to Consider -- References -- 7. Future Prospects -- Lysosomal Biogenesis and Function -- Pathogenesis -- Animal Models -- Phenotype -- Diagnosis -- Blood-Brain Barrier -- Strategies to Improve Therapeutic Outcome -- References -- Disease Index -- General Index. | |
| 520 | |a This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiology and prospective therapeutic strategies. The book is written by an expert in the field who has been engaged in both basic and clinical research, in addition to having extensive practical experience in patient care. It is written from the perspective of someone who entered the field just as treatmen. | ||
| 590 | |a ProQuest Ebook Central |b Ebook Central Academic Complete | ||
| 650 | 0 | |a Lysosomal storage diseases. | |
| 650 | 0 | |a Lysosomal storage diseases |x Treatment. | |
| 650 | 2 | |a Lysosomal Storage Diseases | |
| 650 | 6 | |a Maladies lysosomiales congénitales. | |
| 650 | 6 | |a Maladies lysosomiales congénitales |x Traitement. | |
| 650 | 7 | |a Lysosomal storage diseases. |2 fast |0 (OCoLC)fst01004400 | |
| 650 | 7 | |a Lysosomal storage diseases |x Treatment. |2 fast |0 (OCoLC)fst01004401 | |
| 655 | 4 | |a Electronic resource. | |
| 720 | |a Pastores Gregory M. | ||
| 758 | |i has work: |a Lysosomal storage disorders (Text) |1 https://id.oclc.org/worldcat/entity/E39PCGXqQvgfXYM7VXKBGXVQYK |4 https://id.oclc.org/worldcat/ontology/hasWork | ||
| 856 | 4 | 0 | |u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=1681392 |z Texto completo |
| 938 | |a EBL - Ebook Library |b EBLB |n EBL1681392 | ||
| 938 | |a ProQuest MyiLibrary Digital eBook Collection |b IDEB |n 275791 | ||
| 994 | |a 92 |b IZTAP | ||