MARC details
| 000 -LEADER |
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05469nam a22004815i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
978-0-387-70909-3 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20250710084011.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
100301s2007 xxu| s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9780387709093 |
| -- |
99780387709093 |
| 024 7# - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1007/978-0-387-70909-3 |
| Source of number or code |
doi |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
611.01816 |
| Edition information |
23 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
599.935 |
| Edition information |
23 |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
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| Personal name |
Barranger, John A. |
| Relator term |
author. |
| 245 10 - TITLE STATEMENT |
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| Title |
Lysosomal Storage Disorders |
| Medium |
[recurso electrónico] / |
| Statement of responsibility, etc. |
by John A. Barranger, Mario A. Cabrera-Salazar. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
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| Place of production, publication, distribution, manufacture |
Boston, MA : |
| Name of producer, publisher, distributor, manufacturer |
Springer US, |
| Date of production, publication, distribution, manufacture, or copyright notice |
2007. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Other physical details |
online resource. |
| 336 ## - CONTENT TYPE |
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| Content type term |
text |
| Content type code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
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| Media type term |
computer |
| Media type code |
c |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
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| Carrier type term |
recurso en línea |
| Carrier type code |
cr |
| Source |
rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS |
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| File type |
text file |
| Encoding format |
PDF |
| Source |
rda |
| 505 0# - FORMATTED CONTENTS NOTE |
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| Formatted contents note |
From Lysosomes to Storage Diseases and Back: A Personal Reminiscence -- Lysosomal Biogenesis and Disease -- The Concept of Treatment in Lysosomal Storage Diseases -- Complex Lipid Catabolism -- Retroviral Vectors for Gene Therapy -- Adenovirus in Gene Therapy -- Setting Back the Clock: Adenoviral-Mediated Gene Therapy for Lysosomal Storage Disorders -- Adeno-Associated Viral-Mediated Gene Therapy of Lysosomal Storage Disorders -- Herpes Simplex Virus Vectors for Gene Therapy of Lysosomal Storage Disorders -- Gene Therapy of Lysosomal Storage Disorders by Lentiviral Vectors -- Substrate Reduction Therapy -- Newborn Screening for Lysosomal Storage Disorders -- Genetic Counseling for Lysosomal Storage Diseases -- Neural Stem Cell Therapy in Lysosomal Storage Disorders -- The GM1 Gangliosidoses -- The GM2 Gangliosidoses -- Acid Sphingomyelinase-Deficient Niemann-Pick Disease -- Krabbe Disease (Globoid Cell Leukodystrophy) -- Metachromatic Leukodystrophy -- Fabry Disease -- Gaucher Disease: Review and Perspectives on Treatment -- Therapeutic Goals in the Treatment of Gaucher Disease -- The Neuronal Ceroid Lipofuscinoses: Clinical Features and Molecular Basis of Disease -- Mucopolysaccharidosis I -- Mucopolysaccharidosis II (Hunter Syndrome) -- Sanfilippo Syndrome: Clinical Genetic Diagnosis and Therapies -- Mucopolysaccharidosis IV (Morquio Syndrome) -- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) -- Mucopolysaccharidosis Type VII (Sly Disease): Clinical, Genetic Diagnosis and Therapies -- Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency -- Lysosomal Free Sialic Acid Storage Disorders: Salla Disease and ISSD -- Cystinosis -- I-Cell Disease. |
| 520 ## - SUMMARY, ETC. |
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| Summary, etc. |
Lysosomal Biology and Storage Disorders John A. Barranger and Mario A. Cabrera-Salazar The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. Lysosomal Biology and Storage Disorders describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities. Organized as a textbook, Lysosomal Biology and Storage Disorders describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. Lysosomal Biology and Storage Disorders will be attract to all researchers in biochemical and molecular genetics, enzyme therapy, gene transfer, and others concerned with the models of genetic disease. This book is dedicated to patients affected by Lysosomal Storage Disorders, and especially to the National Gaucher Foundation (USA) and the Colombian Association of Patients with Lysosomal Storage Diseases (ACOPEL for its Spanish Acronym). Both organizations will share in the sales of this book. About the Editors: John A. Barranger, M.D., Ph.D. is a Professor in the departments of human genetics, molecular genetics and biochemistry, and pediatrics at the University of Pittsburgh School of Medicine. He has also served as director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center in this institution Mario A. Cabrera-Salazar, MD is a Staff Scientist at Genzyme Corporation in Framingham, MA. He is involved in the development of enzymatic and gene therapies for lysosomal storage disorders and for neurodegenerative diseases in the department of Genetic Disease Science. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
MEDICINE. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
HUMAN GENETICS. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
EPIDEMIOLOGY. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
BIOCHEMISTRY. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
CYTOLOGY. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
BIOMEDICINE. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
HUMAN GENETICS. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
EPIDEMIOLOGY. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
BIOCHEMISTRY, GENERAL. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
CELL BIOLOGY. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Cabrera-Salazar, Mario A. |
| Relator term |
author. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
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| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
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| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
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| Relationship information |
Printed edition: |
| International Standard Book Number |
9780387709086 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
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| Uniform Resource Identifier |
<a href="http://dx.doi.org/10.1007/978-0-387-70909-3">http://dx.doi.org/10.1007/978-0-387-70909-3</a> |
| Public note |
Ver el texto completo en las instalaciones del CICY |
| 912 ## - |
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| -- |
ZDB-2-SBL |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Source of classification or shelving scheme |
Dewey Decimal Classification |
| Koha item type |
Libros electrónicos |
