Your cart is empty
Have an account? Log in to check out faster.
Have an account? Log in to check out faster.
Premium PDF Edition — One-time purchase. No Kindle Unlimited subscription needed.
| Language | English |
| Format | PDF (Premium Digital) |
| Ownership | Permanent download — yours forever |
Early Diagnosis and Prevention of Genetic Diseases by Ln Went
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.| ISBN 13 | 9789401019323 |
|---|---|
| ISBN 10 | 9401019320 |
| Author | Ln Went |
| Series | Boerhaave Series For Postgraduate Medical Education |
| Condition | New |
| Binding Type | Paperback |
| Publisher | Springer |
| Year published | 2011-11-10 |
| Number of pages | 168 |
| Cover note | Book picture is for illustrative purposes only, actual binding, cover or edition may vary. |
"I was paying $11.99/month for Kindle Unlimited but realized I was renting books, not owning them. Bought this PDF and it's mine forever. Never going back to Kindle."
"Switched from Kindle to these PDFs. Same book, but I actually OWN it now. No monthly fees, no app required. Worth every penny."
"Kindle Unlimited kept raising prices. This is a one-time purchase and the file is permanently on my iPad. Best decision I've made for my reading habit."
"I compared Kindle vs this store. Kindle is cheaper monthly but you don't own anything. Here I paid once and the PDF is mine for life. Highly recommend."
"Left Kindle behind after they removed a book I was reading mid-series. With this PDF, nobody can take it away from me. True ownership feels good."
"Was skeptical about paying $18.95 when Kindle shows $3.99, but then I did the math — Kindle Unlimited is $143/year! This is way better value long term."
"Love that I can read this on any device without installing the Kindle app. The PDF works on my laptop, phone, and tablet seamlessly. So much freedom."
"My Kindle subscription was getting expensive. Switched to buying PDFs here and I'm saving money while actually building a permanent digital library I control."
"I was paying $11.99/month for Kindle Unlimited but realized I was renting books, not owning them. Bought this PDF and it's mine forever. Never going back to Kindle."
"Switched from Kindle to these PDFs. Same book, but I actually OWN it now. No monthly fees, no app required. Worth every penny."
"Kindle Unlimited kept raising prices. This is a one-time purchase and the file is permanently on my iPad. Best decision I've made for my reading habit."
"I compared Kindle vs this store. Kindle is cheaper monthly but you don't own anything. Here I paid once and the PDF is mine for life. Highly recommend."
"Left Kindle behind after they removed a book I was reading mid-series. With this PDF, nobody can take it away from me. True ownership feels good."
"Was skeptical about paying $18.95 when Kindle shows $3.99, but then I did the math — Kindle Unlimited is $143/year! This is way better value long term."
"Love that I can read this on any device without installing the Kindle app. The PDF works on my laptop, phone, and tablet seamlessly. So much freedom."
"My Kindle subscription was getting expensive. Switched to buying PDFs here and I'm saving money while actually building a permanent digital library I control."
$0
Zero monthly fees. Pay once, own forever. Unlike Kindle Unlimited at $11.99/month.
100%
True ownership. Your PDF cannot be revoked, removed, or locked behind a subscription.
Anywhere
No Kindle app required. Read on any device with any PDF reader — even offline forever.
Save
Cheaper than Amazon paperback. Better value than Kindle Unlimited long-term.