Inherited Metabolic Diseases In Pediatrics Clinical And Molecular Features
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Author | : Carla E. M. Hollak |
Publisher | : Oxford University Press |
Total Pages | : 657 |
Release | : 2016 |
Genre | : Medical |
ISBN | : 0199972133 |
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 | : Yuan-Zong Song |
Publisher | : Frontiers Media SA |
Total Pages | : 213 |
Release | : 2022-12-02 |
Genre | : Science |
ISBN | : 2832508472 |
Author | : K. Tada |
Publisher | : Springer Science & Business Media |
Total Pages | : 421 |
Release | : 2013-03-14 |
Genre | : Medical |
ISBN | : 3662031477 |
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 |
Publisher | : Butterworth-Heinemann |
Total Pages | : 335 |
Release | : 2014-04-24 |
Genre | : Medical |
ISBN | : 1483161013 |
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 | : Joe T. R. Clarke |
Publisher | : Cambridge University Press |
Total Pages | : 360 |
Release | : 2005-12-08 |
Genre | : Medical |
ISBN | : 1139447181 |
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Author | : N. Blau |
Publisher | : Springer Science & Business Media |
Total Pages | : 732 |
Release | : 2012-12-06 |
Genre | : Science |
ISBN | : 364255878X |
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.
Author | : Edward C.C. Wong |
Publisher | : Academic Press |
Total Pages | : 1172 |
Release | : 2021-05-13 |
Genre | : Science |
ISBN | : 0128179635 |
Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult
Author | : E. Gilbert-Barness |
Publisher | : IOS Press |
Total Pages | : 960 |
Release | : 2017-01-06 |
Genre | : Medical |
ISBN | : 1614997187 |
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Author | : Edith Louise Potter |
Publisher | : Mosby |
Total Pages | : 1074 |
Release | : 2007 |
Genre | : Medical |
ISBN | : |
This comprehensive reference addresses all aspects of fetal and neonatal pathology, including complicated pregnancies, multiple pregnancies, abortion, placental pathology, and disorders affecting the full-term neonate. A consistent organization allows for quick access to specific guidance, and nearly 2,500 illustrations - 2,350 in full color - depict conditions and abnormalities as they present in practice, facilitating diagnosis. An Image Bank on CD-ROM - new to this edition - features all of the illustrations from the 2-volume set, downloadable for presentations. Offers comprehensive coverage of all common and rare embryonic, fetal, and infant disorders in one source. Correlates clinical, pathologic, and genetic findings for each systemic disease. Emphasizes the genetic and molecular basis of birth defects. Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols. Provides the latest guidance on molecular pathology, immunohistochemistry, DNA technology, and more. Offers an expanded discussion of developmental biology related to the pathogenesis of birth defects. Features user-friendly summary tables and diagnostic flow charts, making information quick and easy to find. Includes a CD-ROM featuring all of the illustrations from the 2-volume set.
Author | : William Nyhan |
Publisher | : CRC Press |
Total Pages | : 889 |
Release | : 2011-12-30 |
Genre | : Medical |
ISBN | : 1444149482 |
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, autho