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Neurophysiological studies were normal. Genetic testing found her to be homozygous for 2 MTHFR mutations. She was commenced on calcium folinate and parenteral B12, to which she responded really well.

The type 1 ryanodine receptor (RyR1) is an important calcium release channel in skeletal muscles essential for muscle ...

One subtype is known as the BRAF V600E mutation. It accounts for half of all BRAF mutations. Human epidermal growth factor receptor 2 (HER2) Between 1% and 4% of NSCLCs involve the human epidermal ...

An optimized version of prime editing technology raises the possibility of a one-time treatment for cystic fibrosis.

"Both escape mutations and increased infectivity were observed in the omicron variant of SARS-CoV-2," says Galardini. "Epistatic interaction can enable pathogens to acquire favorable properties ...

Many long COVID symptoms are related to the neurological system. A new study has revealed mutations in the SARS-CoV-2 genome that can help the virus infect certain cells, including brain cells. These ...

Additionally, each 2-capsule serving provides 167% of the daily value (DV) for folate, an essential vitamin that’s important to take before you get pregnant to reduce the risk of spina bifida ...

prothrombin gene mutation, homocysteinemia and methionin load test. Results 17 patients were enrolled, 9 men and 8 women, aged 34 to 76, with various stages of AVN (from stage 1 to 4). Antithrombin ...