Do kids need their cholesterol checked? What parents and pediatricians should know
Cholesterol tests are well-established as an important part of a routine health screening—for adults. For young people, it's another story.
Oct 28, 2024
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Nutritional and Metabolic Diseases: News and Research on Lipid Metabolism, Inborn Errors
MeSH tree: C18.452.584.563
Improving the recipe for gene therapy: New treatment for Gaucher disease shows promise
Gregory and Deborah Macres from California lost their son, Gregory, in 1997, when he was just 4 years old. Little Gregory had a severe form of a rare genetic disorder called Gaucher disease and died after unsuccessful experimental ...
Oct 14, 2024
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Genetic variations in remote UK regions linked to higher disease risk
People from isolated parts of the U.K. could have variations in their genetic code that increase their chance of developing certain diseases, a study suggests.
Oct 4, 2024
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Most new recessive developmental disorder diagnoses lie within known genes, say scientists
Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. They found that most undiagnosed cases that are due to recessive causes are linked ...
Sep 23, 2024
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Researchers report encouraging first evidence of effective new gene therapy to treat multiple sulfatase deficiency
Researchers from Children's Hospital of Philadelphia (CHOP) have tested a preclinical model for an experimental gene therapy designed to treat multiple sulfatase deficiency (MSD), a disorder that affects the brain, lungs, ...
Sep 9, 2024
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Cancer cells may be using lipids to hide from the immune system
Cancer cells seldom start off stealthy. Quite to the contrary, they announce their presence to the immune system by planting chemical red flags right on their membranes. Once alerted, the body's defenses can swoop in, destroying ...
Sep 9, 2024
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Experts call for routine measurement of lipoprotein (a) levels
Heart experts say that everyone should have their levels of lipoprotein (a), or Lp(a), measured routinely at least once in life, following research from one of the most populous EU countries, Poland, that shows how common ...
Aug 29, 2024
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Should people with kidney disease get genetic testing?
About 37 million people in the United States have chronic kidney disease and studies show that genetics may explain between 10% and 20% of cases in adults (and as many as 70% of cases in children).
Jul 29, 2024
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What families need to know about inherited high cholesterol in children
Many parents think of high cholesterol as a health concern that only affects adults. But did you know that around one in 250 children have elevated cholesterol levels that aren't related to diet, exercise or lifestyle?
Jul 8, 2024
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Fat molecule's inability to bond with shape-shifting protein in cell's powerhouse linked to inherited metabolic disease
By studying mutations in yeast and human cells, Johns Hopkins Medicine scientists say they have found that biochemical bonds between fats and proteins in the mitochondrion, the cell's powerhouse, play a crucial role in how ...
Jun 7, 2024
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