MeSH tree: C18.452.132.100
Minnesota is the first U.S. state to universally test newborns for cytomegalovirus, an easily transmissible virus and a leading cause of infant hearing loss and congenital birth defects.
Feb 9, 2023
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Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less susceptible ...
Feb 6, 2023
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The work of Professor Fanny Mochel (AP-HP, Sorbonne University) at Paris Brain Institute, in collaboration with clinical research teams in eight countries and Spanish biotech Minoryx Therapeutics, has demonstrated the protective ...
Jan 20, 2023
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Babies undergo a newborn screening test for inherited metabolic disorders within seven days of birth. The test checks for risk factors such as hypothyroidism, phenylketonuria and maple syrup urine disease, which can lead ...
Jan 19, 2023
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A toddler is thriving after doctors in the U.S. and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters.
Nov 12, 2022
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Using a protocol developed at UC San Francisco, physicians have successfully treated a fetus with a devastating genetic disorder for the first time, and the child is now thriving as a toddler, a case study in the New England ...
Nov 10, 2022
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Ammonium is a biomarker used to diagnose a series of rare hereditary metabolic disorders, such as the primary disorders of the urea cycle and different organic acidemias, as well as other metabolic and environmental conditions ...
Nov 3, 2022
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Alzheimer's disease (AD) currently has no cure and is predicted to affect over 100 million people worldwide by 2050. Ongoing research is focused on two key neurotoxic proteins: amyloid beta (Aβ) and tau. While these proteins ...
Oct 17, 2022
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Watch any episode of "CSI," and a character will use forensic DNA profiling to identify a criminal. A new study from San Francisco State University suggests that these forensic profiles may indirectly reveal medical information—perhaps ...
Oct 12, 2022
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An automated process that combines natural language processing and machine learning identified people who inject drugs (PWID) in electronic health records more quickly and accurately than current methods that rely on manual ...
Sep 22, 2022
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