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  • Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver National . . .
    Phenylketonuria, often called PKU, is caused by phenylalanine hydroxylase (PAH) deficiency It is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated In PKU, the body can’t process a portion of a protein called phenylalanine, which is in all foods containing protein High levels of phenylalanine can cause brain damage PAH deficiency
  • What are common treatments for phenylketonuria (PKU)?
    PKU has no cure, but treatment can prevent intellectual disabilities and other health problems 1 A person with PKU should receive treatment at a medical center that specializes in the disorder (Visit the Resources section for ways to locate a center ) The PKU Diet People with PKU need to follow a diet that limits foods with phenylalanine The diet should be followed carefully and be started
  • What are common symptoms of phenylketonuria (PKU)?
    Children with untreated PKU begin to lose interest in their surroundings by 3 to 6 months of age and are developmentally delayed by age 1
  • What causes phenylketonuria (PKU)? | NICHD - NICHD - Eunice Kennedy . . .
    PKU is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase
  • How do health care providers diagnose phenylketonuria (PKU)?
    What if my newborn tests positive for PKU? If your newborn’s screening test comes back positive for PKU, your child will need additional tests to confirm that they definitely have the disorder It is very important to follow your health care providers’ instructions for further tests
  • Phenylketonuria (PKU) Resources | NICHD - NICHD - Eunice Kennedy . . .
    The PKU entry in OMIM, which is an online catalog of human genes and genetic disorders published by Johns Hopkins University School of Medicine, covers clinical management, population genetics, and other topics related to PKU Orphanet This international website maintains, updates, and develops information about rare diseases and orphan drugs
  • Phenylketonuria (PKU) and Newborn Screening | NICHD - Eunice Kennedy . . .
    Effective, Low-Cost Screening of Newborns Eliminates a Major Cause of Intellectual Disability In 1934, Norwegian doctor Asbjörn Fölling discovered phenylketonuria (PKU), a rare disease that, if left untreated in newborns, causes intellectual disability, seizures, and deafness In 1939, research showed that PKU was an inherited disorder that resulted from the body's inability to break down
  • NICHD Phenylketonuria (PKU) Research Information
    NICHD supports and conducts research on a wide range of topics related to PKU and other metabolic disorders Research areas include newborn screening, healthy fetal development in pregnant women with PKU, and the pathophysiology of PKU-related IDDs Key NICHD research issues include the following: Newborn screening: Efforts focus on making improvements to screening technology, supporting
  • Eunice Kennedy Shriver National Institute of Child Health and Human . . .
    PKU was the first condition for which a screening test was developed, and the first condition for which widespread newborn testing was implemented in the 1960s If PKU is left untreated, the Phe builds up in the body and brain By 3 to 6 months of age, infants with untreated PKU begin to show symptoms of intellectual and developmental disability
  • Other Phenylketonuria (PKU) FAQs | NICHD - NICHD - Eunice Kennedy . . .
    Find answers to other common questions about PKU, such as whether genetic testing is available and how maternal PKU affects pregnancy





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