Le syndrome d’Omenn

Le syndrome d’Omenn

Ines Maaloul

66,66 €
IVA incluido
Disponible
Editorial:
KS OmniScriptum Publishing
Año de edición:
2025
ISBN:
9786208977924
66,66 €
IVA incluido
Disponible

Selecciona una librería:

  • Librería Samer Atenea
  • Librería Aciertas (Toledo)
  • Kálamo Books
  • Librería Perelló (Valencia)
  • Librería Elías (Asturias)
  • Donde los libros
  • Librería Kolima (Madrid)
  • Librería Proteo (Málaga)
Sobre IBD

Le syndrome d’Omenn est une forme rare de déficit immunitaire comboné sévère à transmission autosomique récessive. Il a été décrit pour la première fois par Gilbert S Omenn en 1965. Il associe des infections récurrentes, une érythrodermie ichtyosiforme, une éosinophilie, une lymphadénopathie et une hépatosplénomégalie, accompagnées de symptômes respiratoires, gastro-intestinaux et un retard de croissance. Le pronostic est réservé et la greffe de moelle osseuse reste le seul traitement curatif.

Artículos relacionados

  • Poetry Is Our Ministry to Touch the Heart
    Anelda Lukesia Ballard / Jean Anelda Scott
    Poetry is Our Ministry to Touch the Heart, was birthed when Anelda L. Ballard became ill. God spoke to her in a dream and said 'pick up a pen and write' by being obedient this book was written through the Holy Spirit. Anelda and her mother Jean A. Scott believes that God’s wants to heal a hurting heart. This book will inspire you and encourage you to never give up hope. Jesu...
    Disponible

    11,12 €

  • I soldati lunghi
    Pierluigi Romeo di Colloredo Mels
    Il 24 maggio 1915 il Regno d’Italia entrò nella Grande Guerra, che si sarebbe dimostrata il momento più alto e tragico della sua storia, a poco più di cinquant’anni dalla sua unificazione.In quella lotta tremenda durata quattro anni, la Brigata Granatieri di Sardegna , con i suoi due valorosi Reggimenti, i più antichi del Regio Esercito scrisse, nel grande quadro della guerra d...
    Disponible

    32,59 €

  • Five Beneath Philly
    Susan Bandy / Tom Richmond
    Allen Williams plans to make something of his life and escape South Philly and the work at Cross Brothers’ Meat Packing Plant. He prepares himself with excellent grades and an upcoming full-ride scholarship to climb out of South Philly forever. Then fate changes his whole world. An only son in a family of six, Allen suddenly finds himself responsible for his mother, grandmother...
    Disponible

    18,28 €

  • Forms
    Sharon Welch
    I am an award-winning artist and my works hang in private residences, community hospitals, businesses, and restaurants across the US and also abroad.  I live in Pierre, South Dakota. Since 2008 I have owned Sharon Welch Gallery and Studio where I paint and teach classes.  My theory is have fun, remove the fear of failure, experiment and let the child inside of you play.Very oft...
  • Ricordi di una ausiliaria
    Andrea Lombardi / Raffaella Duelli
    Le memorie di Raffaella Duelli, Volontaria nel Battaglione Barbarigo della Decima Flottiglia Mas iniziano con la partenza del Barbarigo da Roma, narrando la lunga marcia del reparto verso il nord, sotto il mitragliamento degli aerei Alleati. Quindi, è descritta vividamente l'ultima battaglia del Barbarigo sul Fronte Sud, dal Senio a Comacchio: gli appunti di Raffaella, giov...
    Disponible

    28,08 €

  • Why Didn’t You Ask?
    Panya Dixon
    From an early occurrence in her childhood to a perilous thirteen-year relationship, Panya Dixon too often suffered from various forms of physical, emotional, and sexual abuse. Conflicted between love and the pain her loved ones brought on her, she consistently had to fight for her life and her will to move on. Why Didn’t You Ask? is an expression of Panya’s truth—her trials, pa...
    Disponible

    20,35 €

Otros libros del autor

  • Carenza di glucosio 6-fosfato deidrogenasi
    Ines Maaloul
    Il deficit di G6PD è una delle malattie genetiche più diffuse al mondo, che colpisce più di 400 milioni di persone, soprattutto del bacino del Mediterraneo. Essendo una malattia legata all’X, colpisce principalmente i maschi, sebbene anche le femmine possano esserne affette (mutazioni de novo). L’OMS ha classificato la carenza in 3 classi. Le carenze di classe 2 e 3 sono caratt...
    Disponible

    65,55 €

  • Niedobór dehydrogenazy glukozo-6-fosforanowej
    Ines Maaloul
    Niedobór G6PD jest jednym z najbardziej rozpowszechnionych zaburzeń genetycznych na świecie, dotykającym ponad 400 milionów ludzi, głównie z basenu Morza Śródziemnego. Jako choroba sprzężona z chromosomem X, dotyka głównie chłopców, chociaż może również dotyczyć dziewcząt (mutacje de novo). WHO sklasyfikowała niedobór w 3 klasach. Niedobory klasy 2 i 3 charakteryzują się ryzyki...
    Disponible

    65,61 €

  • Deficiência de glicose 6 fosfato desidrogenase
    Ines Maaloul
    A deficiência de G6PD é uma das doenças genéticas mais difundidas no mundo, afectando mais de 400 milhões de pessoas, principalmente da bacia do Mediterrâneo. Sendo uma doença ligada ao X, afecta principalmente os rapazes, embora as raparigas também possam ser afectadas (mutações de novo). A OMS classificou a deficiência em 3 classes. As deficiências das classes 2 e 3 caracteri...
    Disponible

    65,61 €

  • Der Glukose-6-Phosphat-Dehydrogenase-Mangel
    Ines Maaloul
    Der G6PD-Mangel ist eine der weltweit am weitesten verbreiteten genetischen Erkrankungen, von der über 400 Millionen Menschen betroffen sind, vor allem aus dem Mittelmeerraum. Da es sich um eine X-chromosomale Krankheit handelt, sind vor allem Jungen betroffen, aber auch Mädchen können betroffen sein (de novo-Mutationen). Die WHO hat den Mangel in drei Klassen eingeteilt. Die D...
    Disponible

    65,61 €

  • Glucose 6 phosphate dehydrogenase deficiency
    Ines Maaloul
    G6PD deficiency is one of the most widespread genetic disorders in the world, affecting over 400 million people, mainly from the Mediterranean basin. Being an X-linked disease, it mainly affects boys, although girls can also be affected (de novo mutations). The WHO has classified the deficiency into 3 classes. Class 2 and 3 deficiencies are characterized by a risk of acute hemo...
    Disponible

    65,49 €

  • Le syndrome de Wiskott Aldrich
    Ines Maaloul
    Le syndrome de wiskott aldrich (SWA) est un déficit immunitaire rare lié à X, caractérisé par des mutations du gène WAS. Il se manifeste cliniquement par une triade : l’hémorragie conséquence de la thrombopénie, les infections à répétitions et de l’eczéma. Le séquençage génétique est l’examen de confirmation du SWA. La greffe des cellules souches et la thérapie génique sont des...
    Disponible

    66,66 €