• Anglický jazyk

Niemann Pick disease and pregnancy

Autor: Amina Mnejja

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... Viac o knihe

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O knihe

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.

  • Vydavateľstvo: Our Knowledge Publishing
  • Rok vydania: 2024
  • Formát: Paperback
  • Rozmer: 220 x 150 mm
  • Jazyk: Anglický jazyk
  • ISBN: 9786207848843

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