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Niemann Pick disease and pregnancy

Niemann Pick disease and pregnancy

Amina Mnejja / Dhekra Toumi / Raja Faleh

54,06 €
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Editorial:
KS OmniScriptum Publishing
Año de edición:
2024
Materia
Medicina: cuestiones generales
ISBN:
9786207848843
54,06 €
IVA incluido
Disponible

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Sobre IBD

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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Otros libros del autor

  • Malattia di Niemann Pick e gravidanza
    Amina Mnejja / Dhekra Toumi / Raja Faleh
    Il deficit di sfingomielinasi acida (ASM) (sfingomielina fosfodiesterasi; EC 3.1.4.12) è un errore innato del metabolismo che porta all’accumulo di sfingomielina nelle cellule e nei tessuti e causa la condizione clinica nota come malattia di Niemann-Pick. Riportiamo il caso di una paziente AB seguita per la malattia di Niemann-Pick fin dall’infanzia. Ha subito un parto cesareo ...
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