Niemann Pick disease and pregnancy (Paperback) (ISBN-13: 9786207848843)

Acid sphingomyelinase (ASM) (sphingomyelin phosphodiesterase; EC 3.1.4.12) deficiency is an inborn error of metabolism that leads to the accumulation of sphingomyelin in cells and tissues and causes the clinical condition known as Niemann-Pick disease. We report the case of an AB patient followed for Niemann Pick disease since childhood. She had an emergency caesarean section at 38 weeks for a post-traumatic retroplacental haematoma. Uterine atony controlled by medical treatment. Simple postoperative course. Since the discovery of the first Niemann Pick patients over a century ago, enormous progress has been made in deciphering the pathophysiology of this disease and in developing new treatments.

Author: Amina Mnejja,Dhekra Toumi,Raja Faleh
ISBN-10: 6207848845
ISBN-13: 9786207848843
Publisher: Our Knowledge Publishing
Language: English
Published: 07/31/2024
Pages: 52
Format: Paperback
Weight: 0.20lbs
Size: 9.00h x 6.00w x 0.12d