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Efficacy Of Bh4 Treatment In Individuals With Pku And Its Potential For Decreasing Executive Function Deficits
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Book Synopsis JIMD Reports - Case and Research Reports, 2012/5 by : Johannes Zschocke
Download or read book JIMD Reports - Case and Research Reports, 2012/5 written by Johannes Zschocke and published by Springer Science & Business Media. This book was released on 2012-10-02 with total page 155 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Download or read book PKU and BH4 written by Nenad Blau and published by . This book was released on 2006 with total page 734 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Swaiman's Pediatric Neurology E-Book by : Kenneth F. Swaiman
Download or read book Swaiman's Pediatric Neurology E-Book written by Kenneth F. Swaiman and published by Elsevier Health Sciences. This book was released on 2017-03-16 with total page 2955 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since 1975, Dr. Kenneth Swaiman's classic text has been the reference of choice for authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of excellence with thorough revisions that bring you fully up to date with all that's new in the field. Five new sections, 62 new chapters, 4 new editors, and a reconfigured format make this a comprehensive and clearly-written resource for the experienced clinician as well as the physician-in-training. - Nearly 3,000 line drawings, photographs, tables, and boxes highlight the text, clarify key concepts, and make it easy to find information quickly.
Author :Charles R. Scriver Publisher :New York ; Montreal : McGraw-Hill ISBN 13 :9780071363198 Total Pages :6338 pages Book Rating :4.3/5 (631 download)
Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Book Synopsis Nutrition Management of Inherited Metabolic Diseases by : Laurie E. Bernstein
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer Nature. This book was released on 2022-06-14 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are also addressed. In addition, current medical management therapies is included.
Book Synopsis Metabolic and Immune Disorders Associated with Psychiatric Disease: Potential Etiology and Pathway for Treatment by : Richard Eugene Frye
Download or read book Metabolic and Immune Disorders Associated with Psychiatric Disease: Potential Etiology and Pathway for Treatment written by Richard Eugene Frye and published by Frontiers Media SA. This book was released on 2020-08-27 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Nelson Textbook of Pediatrics E-Book by : Robert Kliegman
Download or read book Nelson Textbook of Pediatrics E-Book written by Robert Kliegman and published by Elsevier Health Sciences. This book was released on 2019-04-01 with total page 6667 pages. Available in PDF, EPUB and Kindle. Book excerpt: Welcome to the 21st Edition of Nelson Textbook of Pediatrics – the reference of choice among pediatricians, pediatric residents, and others involved in the care of young patients. This fully revised edition continues to provide the breadth and depth of knowledge you expect from Nelson, while also keeping you up to date with new advances in the science and art of pediatric practice. Authoritative and reader-friendly, it delivers the information you need in a concise, easy-to-use format for everyday reference and study. From rapidly changing diagnostic and treatment protocols to new technologies to the wide range of biologic, psychologic, and social problems faced by children today, this comprehensive reference keeps you on the cutting edge of the very best in pediatric care. - Includes more than 70 new chapters, including Postural Orthostatic Tachycardia Syndrome (POTS), Rare and Undiagnosed Diseases, Approach to Mitochondrial Disorders, Electronic Nicotine Delivery Systems, Zika, update on Ebola, Epigenetics, Autoimmune Encephalitis, Global Health, Racism, Media Violence, Strategies for Health Behavior Change, Positive Parenting, and many more. - Features hundreds of new figures and tables throughout for visual clarity and quick reference. - Offers new and expanded information on CRISPR gene editing; LGBT health care; gun violence; vaccinations; immune treatment with CAR-T cells; new technology in imaging and genomics; new protocols in cancer, genetics, immunology, and pulmonary medicine; and much more. - Provides fresh perspectives from four new associate editors: Nathan J. Blum of The Children's Hospital of Philadelphia; Karen Wilson of Mt. Sinai School of Medicine in New York; Samir S. Shah of Cincinnati Children's Hospital Medical Center; and Robert C. Tasker of Boston Children's Hospital. - Remains your indispensable source for definitive, evidence-based answers on every aspect of pediatric care.
Book Synopsis Prefrontal Cortex Cognitive Deficits in Children Treated Early and Continuously for PKU by : Adele Diamond
Download or read book Prefrontal Cortex Cognitive Deficits in Children Treated Early and Continuously for PKU written by Adele Diamond and published by . This book was released on 1997 with total page 220 pages. Available in PDF, EPUB and Kindle. Book excerpt: Phenylketonuria (PKU) is the leading biochemical cause for mental retardation in children. The study suggests levels of tyrosine reaching the brain are directly relational to the cognitive functions in the prefrontal cortex.
Book Synopsis Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases by : N. Blau
Download or read book Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Book Synopsis Nutrition Management of Inherited Metabolic Diseases by : Laurie E. Bernstein
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
Book Synopsis Inflammation-Associated Depression: Evidence, Mechanisms and Implications by : Robert Dantzer
Download or read book Inflammation-Associated Depression: Evidence, Mechanisms and Implications written by Robert Dantzer and published by Springer. This book was released on 2016-12-28 with total page 357 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inflammation has invaded the field of psychiatry. The finding that cytokines are elevated in various affective and psychotic disorders brings to the forefront the necessity of identifying the precise research domain criteria (RDoCs) that inflammation is responsible for. This task is certainly the most advanced in major depressive disorders. The reason is that a dearth of clinical and preclinical studies has demonstrated that inflammation can cause symptoms of depression and conversely, cytokine antagonists can attenuate symptoms of depression in medical and psychiatric patients with chronic low grade inflammation. Important knowledge has been gained on the symptom dimensions that inflammation is driving and the mechanisms of action of cytokines in the brain, providing new targets for drug research and development. The aim of the book “Inflammation-Associated Depression” is to present this field of research and its implications in a didactic and comprehensive manner to basic and clinical scientists, psychiatrists, physicians, and students at the graduate level.
Book Synopsis Latest Findings in Intellectual and Developmental Disabilities Research by : Uner Tan
Download or read book Latest Findings in Intellectual and Developmental Disabilities Research written by Uner Tan and published by BoD – Books on Demand. This book was released on 2012-02-15 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: Intellectual and Developmental Disabilities presents reports on a wide range of areas in the field of neurological and intellectual disability, including habitual human quadrupedal locomotion with associated cognitive disabilities, Fragile X syndrome, autism spectrum disorders, Down syndrome, and intellectual developmental disability among children in an African setting. Studies are presented from researchers around the world, looking at aspects as wide-ranging as the genetics behind the conditions to new and innovative therapeutic approaches.
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
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.
Book Synopsis Pediatric Board Study Guide by : Osama Naga
Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Book Synopsis The Brain Atlas by : Thomas A. Woolsey
Download or read book The Brain Atlas written by Thomas A. Woolsey and published by John Wiley & Sons. This book was released on 2017-01-19 with total page 615 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Brain Atlas: A Visual Guide to the Human Central Nervous System integrates modern neuroscience with clinical practice and is now significantly revised and updated for a Fourth Edition. The book's five sections cover: Background Information, The Brain and Its Blood Vessels, Brain Slices, Histological Sections, and Pathways. These are depicted in over 350 high quality intricate figures making it the best available visual guide to human neuroanatomy.
Book Synopsis Milk: the Mammary Gland and Its Secretion by : Stanisław Kazimierz Kon
Download or read book Milk: the Mammary Gland and Its Secretion written by Stanisław Kazimierz Kon and published by . This book was released on 1961 with total page 540 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Nelson Textbook of Pediatrics E-Book by : Robert M. Kliegman
Download or read book Nelson Textbook of Pediatrics E-Book written by Robert M. Kliegman and published by Elsevier Health Sciences. This book was released on 2015-04-17 with total page 5109 pages. Available in PDF, EPUB and Kindle. Book excerpt: After more than 75 years, Nelson Textbook of Pediatrics remains your indispensable source for definitive, state-of-the-art answers on every aspect of pediatric care. Embracing the new advances in science as well as the time-honored art of pediatric practice, this classic reference provides the essential information that practitioners and other care providers involved in pediatric health care throughout the world need to understand to effectively address the enormous range of biologic, psychologic, and social problems that our children and youth may face. Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition. A NEW layout provides superior portability and exceptional ease of use. Gain a more complete perspective. Along with a broader emphasis on imaging and molecular diagnoses and updated references, the new edition includes an increased focus on international issues to ensure relevance in pediatrics practice throughout the world. Effectively apply the latest techniques and approaches with complete updates throughout 35 new chapters, including: Innovations in Addressing Child Health and Survival in Low Income Settings; Developmental Domains and Theories of Cognition; The Reggio Emilia Educational Approach Catatonia ; Refeeding Syndrome; Altitude-associated Illness; Genetic Approaches to Rare and Undiagnosed Diseases; Healthcare−Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella kingae; Mitochondrial Neurogastrointestinal Encephalomyopathy; Nonalcoholic Fatty Liver Disease; Plagiocephaly; CNS Vasculitis; Anterior Cruciate Ligament Rupture; and Sports-Related Traumatic Brain Injury. Recognize, diagnose, and manage genetic and acquired conditions more effectively. A new Rehabilitation section with 10 new chapters, including: Evaluation of the Child for Rehabilitative Services; Severe Traumatic Brain Injury; Spinal Cord Injury and Autonomic Crisis Management; Spasticity; Birth Brachial Plexus Palsy; Traumatic and Sports-Related Injuries; Meningomyelocele; Health and Wellness for Children with Disabilities. Manage the transition to adult healthcare for children with chronic diseases through discussions of the overall health needs of patients with congenital heart defects, diabetes, and cystic fibrosis. Understand the principles of therapy and which drugs and dosages to prescribe for every disease.