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Niemann Pick disease and pregnancy

Niemann Pick disease and pregnancy

Paperback

Medical Reference

ISBN10: 6207848845
ISBN13: 9786207848843
Publisher: Our Knowledge Publishing
Published: Jul 31 2024
Pages: 52
Weight: 0.20
Height: 0.12 Width: 6.00 Depth: 9.00
Language: English
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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Mnejja, Amina

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Medical Reference