Overcoming a Bad Gene

Overcoming a Bad Gene

Overcoming a Bad Gene

Seymour Kaufman

20,44 €
IVA incluido
Disponible
Editorial:
AuthorHouse
Año de edición:
2004
Materia
Medicina pediátrica
ISBN:
9781418437466
20,44 €
IVA incluido
Disponible
Añadir a favoritos

This is the story of the unraveling of a profound medical mystery. It started 70 years ago in Norway, where Mrs Egeland was searching for a physician who could treat her two young children. At birth, both children appeared to be healthy, but they soon developed signs of severe mental retardation. Her search ended when she found Dr. Fölling, who determined that the retardation was caused by a new genetic disease, later named phenylketonuria (PKU), that blocks the oxidation of the amino acid phenylalanine. Later, others devised an inexpensive test for PKU and an effective treatment- the low phenylalanine diet. Although these developments came too late to help Mrs. Egeland’s children, they have helped thousands of other PKU children live normal lives. This is one of the great success stories of modern medicine.There is one painful legacy from PKU that occurs when a woman who is unaware that she has PKU becomes pregnant. Infants born to such women, estimated to be about 6.5 million, will likely be damaged in utero, a condition called Maternal PKU. To prevent this damage, these women must be tested for PKU and, if positive, go on a low phenylalanine diet before they become pregnant.

Artículos relacionados

  • All They Really Need
    Dr. Leslie Solomonian / Heather Hudson
    All They Really Need is a powerful counter-narrative to fear-based parenting and the artificial answers to life’s basic needs. In a relatable and common-sense way, authors Leslie Solomonian and Heather Hudson address today’s biggest parenting concerns, offering strategies to promote the whole health of a child, from birth to adulthood.Meticulously researched, All They Really Ne...
    Disponible

    70,48 €

  • All They Really Need
    Dr. Leslie Solomonian / Heather Hudson
    All They Really Need is a powerful counter-narrative to fear-based parenting and the artificial answers to life’s basic needs. In a relatable and common-sense way, authors Leslie Solomonian and Heather Hudson address today’s biggest parenting concerns, offering strategies to promote the whole health of a child, from birth to adulthood.Meticulously researched, All They Really Ne...
    Disponible

    79,03 €

  • Child Maltreatment
    ...
    Disponible

    125,29 €

  • Tu bebé y tú
    Carlos Bada
    La llegada de nuestro bebé a la casa no solo es el día más hermoso en la vida de los padres, sino que también se puede transformar en el más caótico: ¿qué se debe hacer si no deja de llorar?, ¿en qué posición debe dormir?, ¿cuántas veces le debo cambiar el pañal?En Tu bebé y tú, el Dr. Carlos comparte con todas las madres y padres, que se enfrentan a la titánica tarea de criar ...
    Disponible

    15,08 €

  • The Bioarchaeology of Children
    Mary E. Lewis / Mary ELewis
    ...
    Disponible

    70,26 €

  • The Child’s World of Illness
    Simon R. Wilkinson / Simon RWilkinson / Wilkinson Simon R.
    ...
    Disponible

    102,11 €