Genetics Of Inborn Errors Of Metabolism
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Genetics Of Inborn Errors Of Metabolism
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Author : Elsayed Abdelkreem
language : en
Publisher: Frontiers Media SA
Release Date : 2023-10-27
Genetics Of Inborn Errors Of Metabolism written by Elsayed Abdelkreem and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-10-27 with Science categories.
Genetic Screening For Inborn Errors Of Metabolism
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Author : Harvey L. Levy
language : en
Publisher:
Release Date : 1975
Genetic Screening For Inborn Errors Of Metabolism written by Harvey L. Levy and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1975 with Genetics categories.
Inherited Metabolic Diseases
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Author : Georg F. Hoffmann
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-11-21
Inherited Metabolic Diseases written by Georg F. Hoffmann and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-11-21 with Medical categories.
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.
Pediatric Genetics And Inborn Errors Of Metabolism
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Author : Christine M. Houser
language : en
Publisher:
Release Date : 2014-04-30
Pediatric Genetics And Inborn Errors Of Metabolism written by Christine M. Houser and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-04-30 with categories.
Inborn Errors Of Metabolism
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Author : Brendan Lee
language : en
Publisher: Oxford Monographs on Medical G
Release Date : 2014-10-13
Inborn Errors Of Metabolism written by Brendan Lee and has been published by Oxford Monographs on Medical G this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-10-13 with Medical categories.
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.
Genetic And Metabolic Disease In Pediatrics
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Author : June K. Lloyd
language : en
Publisher: Butterworth-Heinemann
Release Date : 2014-04-24
Genetic And Metabolic Disease In Pediatrics written by June K. Lloyd and has been published by Butterworth-Heinemann this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-04-24 with Medical categories.
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
Pediatric Genetics And Inborn Errors Of Metabolism
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Author : Christine M. Houser
language : en
Publisher: Springer Science & Business Media
Release Date : 2014-04-12
Pediatric Genetics And Inborn Errors Of Metabolism written by Christine M. Houser and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-04-12 with Medical categories.
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.
Inborn Metabolic Diseases
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Author : K. Tada
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-03-14
Inborn Metabolic Diseases written by K. Tada and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-03-14 with Medical categories.
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.
Genetics Diagnosis Inborn Errors Of Metabolism And Newborn Screening
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Author : Michael J. Gambello
language : en
Publisher:
Release Date : 2015
Genetics Diagnosis Inborn Errors Of Metabolism And Newborn Screening written by Michael J. Gambello and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015 with Genetic disorders categories.
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.
Vademecum Metabolicum
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Author : Johannes Zschocke
language : en
Publisher: Schattauer Verlag
Release Date : 2011
Vademecum Metabolicum written by Johannes Zschocke and has been published by Schattauer Verlag this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011 with Pediatrics categories.