Fabry Disease (Record no. 113574)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04521nam a22004575i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-90-481-9033-1 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20140220084602.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 100803s2010 ne | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9789048190331 |
| -- | 978-90-481-9033-1 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-90-481-9033-1 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RC627.5-632 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MFGM |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MED027000 |
| Source | bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.39 |
| Edition number | 23 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Elstein, Deborah. |
| Relator term | editor. |
| 245 10 - TITLE STATEMENT | |
| Title | Fabry Disease |
| Medium | [electronic resource] / |
| Statement of responsibility, etc | edited by Deborah Elstein, Gheona Altarescu, Michael Beck. |
| 264 #1 - | |
| -- | Dordrecht : |
| -- | Springer Netherlands : |
| -- | Imprint: Springer, |
| -- | 2010. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | XXXVII, 512p. |
| Other physical details | online resource. |
| 336 ## - | |
| -- | text |
| -- | txt |
| -- | rdacontent |
| 337 ## - | |
| -- | computer |
| -- | c |
| -- | rdamedia |
| 338 ## - | |
| -- | online resource |
| -- | cr |
| -- | rdacarrier |
| 347 ## - | |
| -- | text file |
| -- | |
| -- | rda |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Pre-Clinical -- Molecular Genetics of Fabry Disease and Genotype–Phenotype Correlation -- The Structure of Human ?-Galactosidase A and Implications for Fabry Disease -- Subcellular, Cellular and Organ Pathology of Fabry Disease -- Biochemistry of Fabry Disease -- Clinically Relevant Examples of Genotype–Phenotype Correlation -- Laboratory Diagnosis of Fabry Disease -- Biomarkers for Fabry Disease -- Fabry Disease Case Finding Studies in High-Risk Populations -- Small Molecule Drug Discovery for Fabry Disease -- Clinical -- Clinical Manifestations of Fabry Disease: An Overview -- The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy -- Renal Manifestations of Fabry Disease -- Neurological Manifestations in Fabry Disease -- Dermatological Manifestations of Fabry Disease -- Histopathology of Skin in Fabry Disease -- Bone and Muscle Involvement in Fabry Disease -- The Eye in Fabry Disease -- Pulmonary, Ear and Less Commonly Appreciated Manifestations -- Neuropsychiatric Manifestations of AFD -- Genetic Counseling and Psychosocial Issues for Individuals and Their Families with Fabry Disease -- Fabry Disease in Females -- Fabry Disease in Pediatric Patients -- Experimental Studies in Mice on the Vasculopathy of Fabry Disease -- Management -- Overview -- Agalsidase Alfa in the Treatment of Anderson-Fabry Disease -- Agalsidase Beta Clinical Trials and Long Term Experience -- Analyses of Agalsidase Alfa and Agalsidase Beta for the Treatment of Fabry Disease -- Enzyme Replacement Therapy in Children with Fabry Disease -- Pharmacological Chaperone Therapy for Fabry Disease -- Potential Factors Influencing Treatment Outcomes -- Symptomatic and Ancillary Therapy -- The Price of Care Versus the Cost of Caring. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc | Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Metabolic diseases. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Medicine & Public Health. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Metabolic Diseases. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Human Genetics. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Altarescu, Gheona. |
| Relator term | editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beck, Michael. |
| Relator term | editor. |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Display text | Printed edition: |
| International Standard Book Number | 9789048190324 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | http://dx.doi.org/10.1007/978-90-481-9033-1 |
| 912 ## - | |
| -- | ZDB-2-SME |
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