Rare Genetic Disorders (Record no. 59702)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03979nam a22005415i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-981-99-9323-9 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20251030112031.0 |
| 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 | 240507s2024 si | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9789819993239 |
| -- | 978-981-99-9323-9 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-981-99-9323-9 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | QH426-470 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | PSAK |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | SCI029000 |
| Source | bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | PSAK |
| Source | thema |
| 245 10 - TITLE STATEMENT | |
| Title | Rare Genetic Disorders |
| Medium | [electronic resource] : |
| Remainder of title | Advancements in Diagnosis and Treatment / |
| Statement of responsibility, etc. | edited by Muhammad Umair, Misbahuddin Rafeeq, Qamre Alam. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. 2024. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Singapore : |
| Name of producer, publisher, distributor, manufacturer | Springer Nature Singapore : |
| -- | Imprint: Springer, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2024. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | XIII, 275 p. 1 illus. |
| Other physical details | online resource. |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS | |
| File type | text file |
| Encoding format | |
| Source | rda |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Chapter 1. Introduction to rare genetic disorders -- Chapter 2. Techniques for genetic disorders -- Chapter 3. Prenatal screening and counseling for rare genetic disorders -- Chapter 4. Disease models for Rare Genetic Disorders -- Chapter 5. Research and clinical approaches to undiagnosed rare genetic disorders -- Chapter 6. Drug discovery and development for Rare Genetic Disorders -- Chapter 7. Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations and Therapeutic Advances in Fabry Disease and Marfan Syndrome -- Chapter 8. Current insights into the potential of gene therapy to treat rare mitochondrial diseases -- Chapter 9. Challenges and future opportunities in Rare Genetic Disorders. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes. Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders. Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities. This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 68863 |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 64976 |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 68866 |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 64976 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Umair, Muhammad. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 76495 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rafeeq, Misbahuddin. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 76496 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alam, Qamre. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 76497 |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer Nature eBook |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9789819993222 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9789819993246 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9789819993253 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/978-981-99-9323-9">https://doi.org/10.1007/978-981-99-9323-9</a> |
| 912 ## - | |
| -- | ZDB-2-SME |
| 912 ## - | |
| -- | ZDB-2-SXM |
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