{"product_id":"early-diagnosis-and-prevention-of-genetic-diseases-by-ln-went","title":"Early Diagnosis and Prevention of Genetic Diseases by Ln Went | ISBN-13 9789401019323","description":"\u003cp\u003e\u003cb\u003eEarly Diagnosis and Prevention of Genetic Diseases by Ln Went\u003c\/b\u003e\u003c\/p\u003e\n The present volume of the Boerhaave series intends to be a reflexion of our present knowledge in the expanding field of early diagnosis and prevention of inherited disorders. Early diagnosis can mean detection of a carrier state in one or both potential parents, detection of a specific inherited disease in a previously born child or during a pregnancy at risk, or during various stages of the life of an already born individual. The first chapters will discuss inherited disorders manifesting later in life. In Huntington's Chorea detection may be possible from the age of 20 or 30 onwards, while in myotonic dystrophy it will be seen that detection may be possible soon after birth. Retinoblastoma serves as example of a disease manifesting in early infancy and which is partially treatable by surgical intervention. The same early onset does occur in phenylketonuria and cystic fibrosis. Both diseases provide examples of the possibilities of population screening, while in phenylketonuria an eminently succesful treatment is found in a restricted diet. For the usually early manifesting sphingolipidoses no treatment exists as yet, but enzyme treatment might in the near future become a reality. Spina bifida and anencephaly are not simple inherited Mendelian dis- orders but they are discussed in this volume because prevention is possible by antenatal diagnosis and subsequent interruption of the pregnancy if re- quested by the future parents. Further views on antenatal diagnosis notably in inborn errors of metabolism are presented in a following chapter.\u003ch3\u003eBook details\u003c\/h3\u003e\u003ctable style=\"border-collapse:collapse;width:100%;\"\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eISBN 13\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003e9789401019323\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eISBN 10\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003e9401019320\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eAuthor\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003eLn Went\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eSeries\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003eBoerhaave Series For Postgraduate Medical Education\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eCondition\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003eNew\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eBinding Type\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003ePaperback\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003ePublisher\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003eSpringer\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eYear published\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003e2011-11-10\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eNumber of pages\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003e168\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth style=\"text-align:left;padding:6px 10px;border:1px solid #ddd;\"\u003eCover note\u003c\/th\u003e\n\u003ctd style=\"padding:6px 10px;border:1px solid #ddd;\"\u003eBook picture is for illustrative purposes only, actual binding, cover or edition may vary.\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e","brand":"Springer","offers":[{"title":"Default Title","offer_id":67682263531765,"sku":"9789401019323","price":39.0,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0795\/8632\/8821\/files\/9789401019323.jpg?v=1791825708","url":"https:\/\/arbiyas.com\/products\/early-diagnosis-and-prevention-of-genetic-diseases-by-ln-went","provider":"Arbiyas","version":"1.0","type":"link"}