Download or read book Hereditary Tyrosinemia Type 1 Revisited written by Saskia Maria Matheus Jacobs and published by . This book was released on 2005 with total page 153 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Hereditary Tyrosinemia written by Robert M. Tanguay and published by Springer. This book was released on 2017-07-27 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field.
Download or read book Diseases of the Liver and Biliary System in Children written by Deirdre A. Kelly and published by John Wiley & Sons. This book was released on 2017-01-04 with total page 1705 pages. Available in PDF, EPUB and Kindle. Book excerpt: This market-leading book, with comprehensive coverage of the entire spectrum of liver disease in children, returns with 12 brand new chapters covering key areas in liver transplantation, viral hepatitis, and liver disease in infancy. Authored by the world’s leading hepatologists and pediatricians and expertly edited by Deirdre Kelly, it covers the entire topic from pathology to diagnosis and clinical management, and in all stages of childhood from the unborn baby through to infancy, and from childhood to the transition into adolescence. Hepatologists, pediatricians and gastroenterologists of all levels will find it an essential tool to consult time and time again
Download or read book Oxford Textbook of Clinical Nephrology written by Neil Turner and published by Oxford University Press. This book was released on 2015-12-22 with total page 3045 pages. Available in PDF, EPUB and Kindle. Book excerpt: Illustrated in full colour throughout, this comprehensive edition provides the reader with complete information on clinical and practical problems in nephrology.
Download or read book Oxford Textbook of Clinical Nephrology written by Neil N. Turner and published by Oxford University Press. This book was released on 2015-10-29 with total page 3045 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.
Download or read book Textbook of Pediatric Gastroenterology Hepatology and Nutrition written by Anupam Sibal and published by JP Medical Ltd. This book was released on 2015-04-30 with total page 512 pages. Available in PDF, EPUB and Kindle. Book excerpt: Textbook of Pediatric Gastroenterology, Hepatology and Nutrition is a comprehensive and up-to-date resource covering disorders of the liver and digestive system. This book is divided into three sections on gastroenterology, nutrition and hepatology respectively, encompassing 37 chapters. The book describes the pathophysiology of a range of paediatric disorders from diseases of the oesophagus and malnutrition, to chronic liver disease, as well as new genetic, metabolic and biochemical tests. Novel therapies are discussed for treatment of diseases such as tyrosinemia and neonatal haemochromtosis, and the hepatology section describes improved treatment for Hepatitis B and C in relation to liver transplantation. New modalities in endoscopy such as endoscopic ultrasound and capsule endoscopy in gastrointestinal disorders are also covered in detail. Enhanced by over 100 images and illustrations, Textbook of Pediatric Gastroenterology, Hepatology and Nutrition is an extensive guide to conditions of the digestive system and liver, which will assist postgraduates, paediatric gastroenterologists and other paediatricians in their practice. Key Points 37 chapters covering a range of disorders of the digestive system and liver Introduces new therapies and treatment modalities 100+ images and illustrations
Download or read book Avery s Diseases of the Newborn First South Asia Edition E Book written by Christine A Gleason, MD and published by Elsevier Health Sciences. This book was released on 2018-05-23 with total page 1973 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covering the evaluation and management of every key disease and condition affecting newborns, Avery's Diseases of the Newborn, by Drs. Christine A. Gleason and Sandra E. Juul, remains your #1 source for practical, clinically relevant information in this fast-changing field. You'll find the specific strategies you need to confidently diagnose and treat this unique patient population, easy-to-use single volume that focuses on key areas of practice. Now in a thoroughly revised first South Asia Edition, this highly respected reference is an authoritative clinical resource for neonatal practitioners. Provides up-to-date information on every aspect of newborn evaluation and management in a new, visually improved format featuring more than 500 all-new illustrations integrated within each chapter. Includes greatly expanded Neurology and Hematology sections that highlight the knowledge and expertise of new co-editor, Dr. Sandra E. Juul. Features all-new chapters on Palliative Care, Gastroesophageal Reflux, Platelet Disorders, Transfusion Therapy, Hypertension, and The Ear and Hearing Disorders, as well as expanded coverage of brain injury and neuroprotective strategies in the preterm and term infant. Contains new Key Points boxes at the beginning of every chapter. Brings you up to date on current topics such as the evolving epidemic of neonatal abstinence syndrome and the new clinical uses of ultrasound
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Download or read book Neurocutaneous Disorders written by Martino Ruggieri and published by Springer Science & Business Media. This book was released on 2009-10-01 with total page 1052 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
Download or read book Cumulated Index Medicus written by and published by . This book was released on 1994 with total page 1516 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Biochemistry written by Victor L. Davidson and published by Lippincott Williams & Wilkins. This book was released on 1999 with total page 504 pages. Available in PDF, EPUB and Kindle. Book excerpt: NMS Biochemistry, Fourth Edition, is designed to help medical students successfully complete a course in biochemistry and prepare for USMLE Step 1. This new edition has been significantly updated, and extensively rewritten to emphasize medical relevance.
Download or read book Neonatology Questions and Controversies Series written by Josef Neu and published by Elsevier Health Sciences. This book was released on 2008-04-09 with total page 648 pages. Available in PDF, EPUB and Kindle. Book excerpt: This exciting new reference brings you information about the most controversial gastroenterology and nutrition challenges you face in your practice. The book confidently tackles these subjects and gives seasoned advice on the latest diagnostic and treatment strategies using evidence-based medicine wherever possible. It gives you the latest information you need to keep pace with the fast-paced, dynamic environment of neonatology. Addresses controversial topics head on, so you can decide how to handle these difficult practice issues. Serves as the bridge between the latest cutting-edge research and its application to clinical practice. Assembles a world-class group of neonatologists, representing the true leaders of the specialty, to ensure the most authoritative content available.
Download or read book Avery s Diseases of the Newborn E Book written by Taylor Sawyer and published by Elsevier Health Sciences. This book was released on 2023-03-20 with total page 1902 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised and updated, Avery's Diseases of the Newborn, 11th Edition, remains your #1 choice for clinically focused, cutting-edge guidance on the evaluation, diagnosis, and treatment of diseases of the newborn. Drs. Christine A. Gleason, Taylor Sawyer, and a team of expert contributing authors provide comprehensive, up-to-date coverage of every key disease and condition affecting newborns, keeping you current in this fast-changing field. You’ll find the specific strategies you need to confidently provide care for this unique patient population, in a full-color, easy-to-use single volume that focuses on key areas of practice. Reflects the latest developments on all aspects of newborn evaluation and management, featuring new content, new chapters, new contributors, and fresh perspectives from a new co-editor. Brings you the latest on current topics such as perinatal/neonatal COVID-19, genomics and precision medicine, acute and chronic neonatal respiratory disorders, brain injury and neuroprotection, necrotizing enterocolitis, probiotics, palliative care, prenatal drug exposure, retinopathy of prematurity, and more. Provides clinically relevant, practical guidance in concise, focused chapters that include summary boxes, suggested readings, and more than 500 full-color illustrations, micrographs, and photographs. Contains the 2020 American Academy of Pediatrics and American Heart Association neonatal resuscitation guidelines and the 2022 American Academy of Pediatrics guidelines on the management of hyperbilirubinemia. Serves as a reliable quick reference for clinical questions and an excellent resource for board review. An eBook version is included with purchase. The eBook allows you to access all of the text, figures and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud.
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Download or read book Genetic Disorders Among Arab Populations written by Ahmad S. Teebi and published by Oxford University Press, USA. This book was released on 1997 with total page 538 pages. Available in PDF, EPUB and Kindle. Book excerpt: Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 718 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.
Download or read book Yamada s Textbook of Gastroenterology written by Daniel K. Podolsky and published by John Wiley & Sons. This book was released on 2015-10-22 with total page 16819 pages. Available in PDF, EPUB and Kindle. Book excerpt: Seit 20 Jahren ist Yamada's Textbook of Gastroenterology das umfassendste und weltweit anerkannte Lehrwerk für das Fachgebiet und vereint in Form einer Enzyklopädie die wissenschaftlichen Grundlagen von Magen-Darm- und Lebererkrankungen mit den neuesten klinischen Erkenntnissen, vor allem Entwicklungen in den Bereichen Diagnose und Therapie. Zu dem Herausgeberteam unter der Leitung von Tachi Yamada, einer der weltweit führenden Forscher des Fachgebiets, gehörten schon immer herausragende Namen. Gleiches gilt für die Autoren vieler Beiträge, die zu den Experten ihres Fachbereichs gehören. Mit dem neuen Chefherausgeber Dan Podolsky, Professor für Innere Medizin an dem Southwestern Medical Center der University of Texas, wurde die 6. Auflage dieses führenden Lehrbuchs aktualisiert und in vielerlei Hinsicht verbessert - Jetzt beim Kauf der Printversion mit kostenlosem Zugriff auf die digitale Ausgabe mit umfassenden Suchfunktionen. - Einheitliche Darstellung der einzelnen Themenabschnitte, unterteilt in wissenschaftliche Grundlagen, Krankheiten und deren Symptome, und damit eine Vereinheitlichung in Aufbau, Inhalt und Länge. - Neuer Abschnitt "Principles of Clinical Gastroenterology" mit Schwerpunkt auf klinische Aspekte. In 14 Kapiteln wird auf die jeweiligen Krankheitssymptome eingegangen. Ärzte können so ihre Patienten in der Klinik noch besser beurteilen und behandeln. - Wichtige Themen werden noch ausführlicher erläutert (autoimmune Pankreatitis, fäkale Biomarker, Genetik, chronisch-entzündliche Darmerkrankungen, systemische IgG4-assoziierte Erkrankungen, Morbus Crohn, Colitis ulcerosa und eosinophile Ösophagitis). - Podcasts international führender Experten zu aktuellen Themen. - Stärkerer Schwerpunkt auf klinische Studien/Versuchsreihen, evidenzbasierte Praxis, Richtlinien von Fachverbänden und Regierungsstellen. - Verweise auf Online-Referenzwerke, Hyperlinks zu Pubmed/CrossRef. Die wichtigsten Verweise sind weiterhin in der Printversion enthalten. - Noch internationaler und global: Neben den führenden Experten aus Nordamerika kommen renommierte Fachärzte aus Europa und Asien zu Wort. Yamada's Textbook of Gastroenterology ist das umfassende Standardwerk der Gastroenterologie. Die 6. Auflage orientiert sich noch stärker am Klinikalltag, ist aufgrund der Fülle an Informationen zu wissenschaftlichen Grundlagen nach wie vor Marktführer und gleichzeitig ein herausragendes Referenzwerk zum klinischen Management von Erkrankungen des Magen-Darm-Trakts. Jetzt noch besser: Kostenloser Online-Zugang zu allen Inhalten der Printausgabe mit weitreichenden Suchfunktionen. Genau das Richtige für Gastroenterologen, ob erfahrener Praktiker oder Berufsanfänger.
