Pediatric Genetics and Inborn Errors of Metabolism - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Pediatric Genetics and Inborn Errors of Metabolism write by Christine M. Houser. This book was released on 2014-04-12. Pediatric Genetics and Inborn Errors of Metabolism available in PDF, EPUB and Kindle. Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.
Pediatric Genetics and Inborn Errors of Metabolism
Pediatric Genetics and Inborn Errors of Metabolism - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Pediatric Genetics and Inborn Errors of Metabolism write by Christine M. Houser. This book was released on 2014-04-30. Pediatric Genetics and Inborn Errors of Metabolism available in PDF, EPUB and Kindle.
Genetic and Metabolic Disease in Pediatrics
Genetic and Metabolic Disease in Pediatrics - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Genetic and Metabolic Disease in Pediatrics write by June K. Lloyd. This book was released on 2014-04-24. Genetic and Metabolic Disease in Pediatrics available in PDF, EPUB and Kindle. Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants
Inborn Metabolic Diseases
Inborn Metabolic Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Inborn Metabolic Diseases write by K. Tada. This book was released on 2013-03-14. Inborn Metabolic Diseases available in PDF, EPUB and Kindle. 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.
Inherited Metabolic Diseases
Inherited Metabolic Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Inherited Metabolic Diseases write by Georg F. Hoffmann. This book was released on 2009-11-21. Inherited Metabolic Diseases available in PDF, EPUB and Kindle. The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
