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portada Niemann Pick Disease and Pregnancy
Type
Physical Book
Publisher
Author
Language
English
Pages
52
Format
Paperback
ISBN13
9786207848843

Niemann Pick Disease and Pregnancy

Amina Mnejja; Dhekra Toumi; Raja Faleh (Author) · Our Knowledge Publishing · Paperback

Niemann Pick Disease and Pregnancy - Amina Mnejja; Dhekra Toumi; Raja Faleh

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Synopsis "Niemann Pick Disease and Pregnancy"

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.

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