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Author : Elsayed Abdelkreem,Sunita Bijarnia-Mahay
Publisher : Frontiers Media SA
Page : 282 pages
File Size : 45,6 Mb
Release : 2023-10-27
Category : Science
ISBN : 9782832537183
Author : Brendan Lee,Fernando Scaglia
Publisher : Oxford Monographs on Medical G
Page : 393 pages
File Size : 50,9 Mb
Release : 2014-10-13
Category : Medical
ISBN : 9780199797585
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.
Author : Christine M. Houser
Publisher : Springer Science & Business Media
Page : 156 pages
File Size : 41,8 Mb
Release : 2014-04-12
Category : Medical
ISBN : 9781493905812
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.
Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publisher : Springer Science & Business Media
Page : 380 pages
File Size : 50,7 Mb
Release : 2009-11-21
Category : Medical
ISBN : 9783540747239
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.
Author : Harvey L. Levy
Publisher : Unknown
Page : 120 pages
File Size : 51,8 Mb
Release : 1975
Category : Genetics
ISBN : UIUC:30112010157052
Author : Uttam Garg,Laurie D. Smith
Publisher : Elsevier
Page : 476 pages
File Size : 45,6 Mb
Release : 2017-06-07
Category : Medical
ISBN : 9780128029183
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
Author : K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publisher : Springer Science & Business Media
Page : 421 pages
File Size : 44,9 Mb
Release : 2013-03-14
Category : Medical
ISBN : 9783662031476
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.
Author : June K. Lloyd,Charles R. Scriver
Publisher : Butterworth-Heinemann
Page : 335 pages
File Size : 43,6 Mb
Release : 2014-04-24
Category : Medical
ISBN : 9781483161013
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
Author : Christine M. Houser
Publisher : Unknown
Page : 160 pages
File Size : 42,7 Mb
Release : 2014-04-30
Category : Electronic
ISBN : 1493905821
Author : Carla E. M. Hollak,Robin Lachmann
Publisher : Oxford University Press
Page : 657 pages
File Size : 43,5 Mb
Release : 2016
Category : Medical
ISBN : 9780199972135
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.
Author : Johannes Zschocke,Georg F. Hoffmann
Publisher : Schattauer Verlag
Page : 188 pages
File Size : 43,7 Mb
Release : 2011
Category : Pediatrics
ISBN : 9783794528165
Author : Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici
Publisher : Springer
Page : 880 pages
File Size : 49,6 Mb
Release : 2014-07-08
Category : Medical
ISBN : 9783642403378
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.
Author : F. Cockburn
Publisher : Springer Science & Business Media
Page : 298 pages
File Size : 40,5 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9789400973251
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Page : 320 pages
File Size : 55,6 Mb
Release : 2021-11-02
Category : Science
ISBN : 9780128152379
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field
Author : Michael J. Gambello,V. Reid Sutton
Publisher : Unknown
Page : 0 pages
File Size : 40,6 Mb
Release : 2015
Category : Genetic disorders
ISBN : 0323356621
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
