MeSH tree: C18.452.132.100
A specific molecule excreted by methane-oxidizing bacteria could be most suitable for therapy against Wilson's disease (WD). This is what researchers led by Helmholtz Munich scientist Hans Zischka have found in a new study. ...
Mar 30, 2023
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Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU), a congenital disease that—if not treated early—causes serious complications. Research demonstrating the efficacy ...
Mar 15, 2023
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Researchers from Children's Hospital of Philadelphia (CHOP) developed two new zebrafish models for studying a specific genetic form of mitochondrial disease that represents the most common cause of Leigh syndrome. Using these ...
Feb 21, 2023
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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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