Download or read book Carbohydrate and Glycoprotein Metabolism Maternal Phenylketonuria written by R. Angus Harkness and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: 394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments.
Download or read book Cumulated Index Medicus written by and published by . This book was released on 1975 with total page 1352 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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Download or read book Oski s Pediatric Certification and Recertification Board Review written by Carmen Coombs and published by Lippincott Williams & Wilkins. This book was released on 2011-12-21 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oski's Pediatric Certification and Recertification Board Review provides comprehensive coverage of all of the areas focused on in the board exam. Features include more than 300 board-style review questions, a full-color design and illustrations, and numerous Points to Remember.
Download or read book Diseases of the Nervous System in Childhood written by Jean Aicardi and published by Mac Keith Press. This book was released on 2009-03-16 with total page 984 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition is comprehensively updated whilst retaining both the popular problem-solving approach and its familiar organisation and style. Notable advances receive careful coverage, from molecular genetics and imaging technology to 'new' diseases and important treatmen developments.
Download or read book Nelson Essentials of Pediatrics E Book written by Karen Marcdante and published by Elsevier Health Sciences. This book was released on 2014-02-25 with total page 779 pages. Available in PDF, EPUB and Kindle. Book excerpt: The resource of choice for pediatric residencies, clerkships, and exams, Nelson Essentials of Pediatrics continues to provide a focused overview of the core knowledge in pediatrics. Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse practitioners, and physician assistants. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Get an effective overview of pediatrics with help from concise text, a full-color design, high-yield tables, and numerous images. Take advantage of a wealth of images that capture the clinical manifestations and findings associated with Kawasaki disease, lupus, lymphoma, stroke, and many other disorders seen in children. Efficiently review essential, concise pediatric content with this popular extension of the Nelson Textbook of Pediatrics (ISBN: 978-1-4377-0755-7). Focus on the core knowledge needed for your pediatric clerkship or rotation with coverage that follows the COMSEP curriculum guidelines. Easily visualize complex aspects with a full-color layout and images, as well as numerous tables throughout the text.
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Download or read book Pediatric Neurology written by Kenneth F. Swaiman and published by Elsevier Health Sciences. This book was released on 2006-01-01 with total page 2535 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Gold Standard in clinical child neurology presents the entire specialty in the most comprehensive, authoritative, and clearly written fashion. Its clinical focus, along with relevant science, throughout is directed at both the experienced clinician and the physician in training. New editor, Dr. Ferriero brings expertise in neonatal neurology to the Fourth Edition. New chapters: Pathophysiology of Hypoxic Ischemic Encephalopathy, Congenital Disorders of Glycosylation, Pediatric Neurotransmitter Diseases, Neurophysiology of Epilepsy, Genetics of Epilepsy, Pediatric Neurorehabilitation Medicine, Neuropsychopharmacology, Pain and Palliative Care Management, Ethical Issues in Child Neurology
Download or read book Index Medicus written by and published by . This book was released on 2002 with total page 1996 pages. Available in PDF, EPUB and Kindle. Book excerpt: Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.
Download or read book Fetal and Neonatal Neurology and Neurosurgery written by Malcolm I. Levene and published by Elsevier Health Sciences. This book was released on 2009-01-01 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive reference work on the developing brain from conception through the first year of life, this book provides specialists involved in the management of the fetus and the neonate with the latest information on the developmental neurology and pathology of the developing central nervous system.
Download or read book Neurology in Clinical Practice written by Walter George Bradley and published by . This book was released on 2004 with total page 1672 pages. Available in PDF, EPUB and Kindle. Book excerpt: New edition, completely rewritten, with new chapters on endovascular surgery and mitochrondrial and ion channel disorders.
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Download or read book Nelson Essentials of Pediatrics written by Karen Marcdante and published by Elsevier Health Sciences. This book was released on 2010-03-31 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Considered the resource of choice for pediatric residencies, clerkships, and exams, Nelson Essentials of Pediatrics provides comprehensive, yet concise and accessible guidance on normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders. Edited by Drs. Karen Marcdante, Robert M. Kliegman, Hal B. Jenson, and Richard E. Behrman, this edition's content was specifically developed in accordance with the 2009 curriculum guidelines of the Council on Medical Student Education in Pediatrics. It also includes many new and improved clinical photographs and images for enhanced visual reference. A user-friendly full-color format facilitate study and expedite reference. Concise text, a full-color design, high-yield tables, and numerous images provide an effective overview of pediatrics. Edited by the same authorities responsible for the Nelson Textbook of Pediatrics, the most used and recognizable clinical reference in pediatrics. Content developed in accordance with 2009 COMSEP curriculum guidelines, and written and edited by leaders in pediatrics education, focuses on the core knowledge needed for a pediatric clerkship or rotation. A wealth of new images captures the clinical manifestations and imaging findings associated with Kawasaki disease, lupus, lymphoma, stroke, and many other disorders seen in children.
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Download or read book Genetics Abstracts written by and published by . This book was released on 1980 with total page 674 pages. Available in PDF, EPUB and Kindle. Book excerpt:
