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 ...
Read More
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.
Read Less
Add this copy of Early Diagnosis and Prevention of Genetic Diseases to cart. $51.65, new condition, Sold by Ingram Customer Returns Center rated 5.0 out of 5 stars, ships from NV, USA, published 2011 by Springer.
Add this copy of Early Diagnosis and Prevention of Genetic Diseases to cart. $58.73, new condition, Sold by GreatBookPrices rated 4.0 out of 5 stars, ships from Columbia, MD, UNITED STATES, published 2011 by Springer.
Choose your shipping method in Checkout. Costs may vary based on destination.
Seller's Description:
New. Trade paperback (US). Glued binding. 168 p. Boerhaave Series for Postgraduate Medical Education, 11. In Stock. 100% Money Back Guarantee. Brand New, Perfect Condition, allow 4-14 business days for standard shipping. To Alaska, Hawaii, U.S. protectorate, P.O. box, and APO/FPO addresses allow 4-28 business days for Standard shipping. No expedited shipping. All orders placed with expedited shipping will be cancelled. Over 3, 000, 000 happy customers.