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NIEMANN PICK DISEASE AND PREGNANCY IBD

OUR KNOWLEDGE PUBLISHING
07 / 2024
9786207848843
Inglés

Sinopsis

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.

PVP
54,06