Metabolism, not genes, may offer more insight into risk of some diseases
Our ancestry can be detected not only in our genes, but also in our metabolism, a new Yale-led study has found.
Oct 17, 2022
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Molecular Genetics and Metabolism is a contribution to the understanding of the metabolic basis of disease. The journal publishes articles describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, occasional minireviews reporting timely advances as well as brief communications and letters to the editor are considered.
Our ancestry can be detected not only in our genes, but also in our metabolism, a new Yale-led study has found.
Oct 17, 2022
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48
Babies with inherited intolerance of fructose face a risk of acute liver failure if they are fed certain widely available formulas containing fructose, pediatricians and geneticists are warning. Baby formula manufacturers ...
May 16, 2018
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Researchers are closer to finding a better way to treat children with a rare metabolic disorder called MPS I. It is caused by a deficiency of the key enzyme IDUA needed to break down complex sugars in cells. MPS I eventually ...
Jul 28, 2016
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Natural history studies serve as an important standard in medical research because they analyze demographic, genetic, environmental and other variables to better understand how a disease develops and its clinical outcomes.
Apr 22, 2024
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Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) developed a new method of capturing patient and caregiver reported outcomes that can be readily integrated with clinical information ...
Mar 28, 2024
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Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia (CHOP) have found that developmental delays associated with Leigh syndrome, the most common pediatric mitochondrial disorder, ...
Mar 1, 2022
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Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia (CHOP) have developed a comprehensive sequencing test specifically for mitochondrial DNA (mtDNA). This new clinical diagnostic ...
Jan 25, 2022
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Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type ...
Nov 19, 2021
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A new study summarizes over 30 years of clinical experience in the treatment and management of glutaric acidemia type 1 (GA1), a rare and potentially devastating metabolic disorder caused by variants in the GCDH gene. The ...
Oct 14, 2020
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A new study analyzes 30 years of patient data and details the clinical course of 184 individuals with genetically diverse forms of Maple Syrup Urine Disease (MSUD), which is among the most volatile and dangerous inherited ...
Jan 24, 2020
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