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Author: William L. Nyhan
Publisher:
ISBN:
Category : Amino acids
Languages : en
Pages : 765
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Book Description
Author: William L. Nyhan
Publisher:
ISBN:
Category : Amino acids
Languages : en
Pages : 765
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Book Description
Author: The Royal Society
Publisher: National Academies Press
ISBN: 0309671132
Category : Medical
Languages : en
Pages : 239
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Book Description
Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Author: P.F. Benson
Publisher: Springer Science & Business Media
ISBN: 9780852007846
Category : Medical
Languages : en
Pages : 182
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Book Description
1 The success of early diagnosis and therefore of treatment of phe nylketonuria, inevitably suggests the possibility of early screening and treatment of other genetic metabolic abnormalities. This volume contains a summary of papers delivered at a Workshop on "Recent Advances in Screening and Management of Potentially Trea table Genetic Metabolic Disorders" held under the auspices of the Com mission of the European Communi ties, in London, U. K., on the 17th and 18th March 1983 to consider such possibilities. The Workshop was not aimed at those disorders for which the prin ciples of treatment and management have been soundly established, or for which screening procedures are in general use. The papers therefore do not form a comprehensive account of metabolic disorders. The topics for discussion were selected mainly to highlight recent discoveries which might be exploited by concerted approaches between different cen tres, especially when the immediate benefits were restricted to only a few centres. Recent reports suggest that about 2% of infants with persistent hyperphenylaninaemia do not respond to treatment by phenylalanine - low diets, and develop severe brain damage. Infants with such "Malignant Hyperphenylalaninaemia" due to one of several genetic causes of tetrahy drobiopterin deficiency should be rapidly identi fied since there is evidence that appropriate treatment will prevent brain damage. The Workshop considered how appropriate screening could be made generally available.
Author: Robert King
Publisher: Springer Science & Business Media
ISBN: 1461344700
Category : Medical
Languages : en
Pages : 664
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Book Description
The purpose of the first four volumes of the Handbook of Genetics is to bring together collections of relatively short, authoritative essays or an notated compilations of data on topics of significance to geneticists. Many of the essays will deal with various aspects of the biology of certain species or species groups selected because they are favorite subjects for genetic investigation in nature or the laboratory. Often there will be an encyclo pedic amount of information available on such species, with new papers appearing daily. Most of these will be written for specialists in a jargon that is bewildering to a novice, and sometimes even to a veteran geneticist working with evolutionarily distant organisms. For such readers what is needed is a written introduction to the morphology, life cycle, reproductive behavior, and culture methods for the species in question. What are its particular advantages (and disadvantages) for genetic study, and what have we learned from it? Where are the classic papers, the key bibli ographies, and how does one get stocks of wild type or mutant strains? Lists giving the symbolism and descriptions for selected mutants that have been retained and are thus available for future studies are provided whenever possible. Genetic and cytological maps, mitotic karyotypes, and haploid DNA values are also included when available. Volume 4 deals with certain vertebrate species that have been studied in considerable detail from the standpoint of genetics or molecular cytogenetics. Such data are available for only a relatively few vertebrates.
Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338
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Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: William Nyhan
Publisher: CRC Press
ISBN: 1444149482
Category : Medical
Languages : en
Pages : 889
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Book Description
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, autho
Author: K. Tada
Publisher: Springer Science & Business Media
ISBN: 3662031477
Category : Medical
Languages : en
Pages : 421
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Book Description
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Author: Johannes Zschocke
Publisher: Schattauer Verlag
ISBN: 3794528166
Category : Pediatrics
Languages : en
Pages : 188
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Book Description
Author: National Library of Medicine (U.S.)
Publisher:
ISBN:
Category : Medicine
Languages : en
Pages :
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Book Description
First multi-year cumulation covers six years: 1965-70.
Author: Daniel Bergsma
Publisher: Springer
ISBN: 1349051314
Category : Medical
Languages : en
Pages : 1214
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Book Description
