by Enid Gilbert-Barness 4nd Lewis A. Barness
English | 2017 | ISBN: 1614997179 | 960 Pages | PDF | 157 MB
The 2nd Edition of Metabolic Diseases provides readers with a completely upd4teed description of the Foundations of Clinical Management, Genetics, 4nd Pathology. A distinguished group of 31 expert auth08rs has contributed 25 chapters as a tribute to Enid Gilbert-Barness 4nd the late Lewis Barness?C- both pioneers in this topic. Enids unique perspectives on the pathology of genetic dis08rders 4nd Lews unsurpassed knowledge of metabolism integrated with nutrition have inspired the contribut08rs to write interdisciplinary descriptions of generally rare, 4nd always challenging, hereditary metabolic dis08rders. Discussions of these interesting genetic dis08rders are 08rganized in the perspective of molecular abn08rmalities leading to m08rphologic disturbances with distinct pathology 4nd clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods 4nd discovery of new, m08re effective therapies f08r many of the diseases. It includes optimal strategies f08r diagnosis 4nd inf08rmation on access to specialized lab08rat08ries f08r specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, 4nd lab08rat08rians engaged in prenatal 4nd/08r neonatal screening. In addition, all scientists 4nd health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters inf08rmative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues 4nd vistas f08r our readers 4nd that they will share with us the interest, excitement 4nd passion of the research 1n8t0 all these challenging dis08rders.