Inborn Errors Of Development
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Epstein S Inborn Errors Of Development
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Author : Robert P. Erickson
language : en
Publisher: Oxford University Press
Release Date : 2016
Epstein S Inborn Errors Of Development written by Robert P. Erickson and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with Medical categories.
Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
Inborn Errors Of Development
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Author : Charles J. Epstein
language : en
Publisher: Oxford University Press, USA
Release Date : 2004
Inborn Errors Of Development written by Charles J. Epstein and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Medical categories.
In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Neurogenetic Developmental Disorders
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Author : Michèle M. M. Mazzocco
language : en
Publisher: MIT Press
Release Date : 2007
Neurogenetic Developmental Disorders written by Michèle M. M. Mazzocco and has been published by MIT Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Child categories.
Table of Contents: 1. Turner syndrome in childhood / Marsha L. Davenport, Stephen R. Hooper and Martha Zeger 2. Klinefelter syndrome / Judith L. Ross, Gerry A. Stefanatos and David Roeltgen 3. Fragile X syndrome : the journey from genes to behavior / Kimberly M. Cornish, Andrew Levitas and Vicki Sudhalter 4. Duchenne muscular dystrophy / Veronica J. Hinton and Edward M. Goldstein 5. Neurofibromatosis / John M. Slopis and Bartlett D. Moore III 6. Cognitive and behavioral characteristics of children with chromosome 22q11.2 deletion syndrome / Tony J. Simon, Merav Burg-Malki and Doron Gothelf 7. Williams Syndrome / Carolyn B. Mervis and Colleen A. Morris 8. Congenital hypothyroidism : genetic and biochemical influences on brain development and neuropsychological functioning / Joanne F. Rovet and Rosalind Brown 9. Inborn errors of metabolism / Kevin M. Antshel and Georgianne Arnold 10. Neurodevelopmental effects of childhood exposure to heavy metals : lessons from pediatric lead poisoning / Theodore I. Lidsky, Agnes T. Heaney, Jay S. Schneider and John F. Rosen 11. Beyond the diagnosis : the process of genetic counseling / Allyn McConkie-Rosell and Julianne O'Daniel 12. From diagnosis to adaptation : optimizing family and child functioning when a genetic diagnosis is associated with mental retardation / Laraine Masters Glidden and Sarah A. Schoolcraft 13. When a genetic disorder is associated with learning disabilities / Michele M. M. Mazzocco 14. Early intervention and early childhood special education for young children with neurogenetic disorders / Deborah D. Hatton 15. The individualized education program : navigating the IEP development process / Vicki Sudhalter.
Inborn Errors Of Metabolism
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Author : Brendan Lee
language : en
Publisher: Oxford Monographs on Medical G
Release Date : 2014-10-13
Inborn Errors Of Metabolism written by Brendan Lee and has been published by Oxford Monographs on Medical G this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-10-13 with Medical categories.
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Biomarkers In Inborn Errors Of Metabolism
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Author : Uttam Garg
language : en
Publisher: Elsevier
Release Date : 2017-06-07
Biomarkers In Inborn Errors Of Metabolism written by Uttam Garg and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-06-07 with Medical categories.
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Inborn Metabolic Diseases
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Author : K. Tada
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-03-14
Inborn Metabolic Diseases written by K. Tada and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-03-14 with Medical categories.
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.
The Metabolic Molecular Bases Of Inherited Disease
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Author : Charles R. Scriver
language : en
Publisher: New York ; Montreal : McGraw-Hill
Release Date : 2001
The Metabolic Molecular Bases Of Inherited Disease written by Charles R. Scriver and has been published by New York ; Montreal : McGraw-Hill this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001 with Genetic disorders categories.
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer
Release Date : 2014-07-08
Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases written by Nenad Blau and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-08 with Medical categories.
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Inborn Errors Of Metabolism In Humans
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Author : F. Cockburn
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Inborn Errors Of Metabolism In Humans written by F. Cockburn and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
Normal And Pathological Development Of Energy Metabolism
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Author : F. A. Hommes
language : en
Publisher:
Release Date : 1975
Normal And Pathological Development Of Energy Metabolism written by F. A. Hommes and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1975 with categories.