Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Rachel McGowan"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101106- (2024)
Hearing loss is frequently associated with Gaucher disease (GD). Gaucher cells are enlarged reticuloendothelial cells containing glucocerebroside in the lysosomes due to deficiency of the glucocerebrosidase. Gaucheromas consist of accumulated Gaucher
Externí odkaz:
https://doaj.org/article/7682f144f1bd4501909607e27f31603b
Autor:
Rachel McGowan, Shoji Yano
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101138- (2024)
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal recessive disorder of leucine metabolism. Since 3-MCC deficiency is thought to be a benign condition, a few newborn screening programs discontinued to screen this condition. We repor
Externí odkaz:
https://doaj.org/article/27c3134ae55d4f4ea9e5f1366199e3d1
Autor:
Mohammad Amin Adie MD, Maria Martes Gomez DO, Jessica Yom MD, Manuel Durand MD, Fiona Wertheimer DO, Rachel McGowan MS, RD, Shoji Yano MD, PhD, Rangasamy Ramanathan MD
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023)
We are reporting monochorionic, diamniotic twin premature infants born at 25 weeks and 6 days gestation with riboflavin (vitamin B2) and biotin (vitamin B7) deficiency, while on prolonged total parenteral nutrition (TPN) during vitamin shortage. They
Externí odkaz:
https://doaj.org/article/fb20042455894f3596a94c73ad8b1022
Publikováno v:
PLoS ONE, Vol 16, Iss 6 (2021)
Background Men with a newly diagnosed prostate cancer are often treated by surgery. The time window between cancer diagnosis and surgery causes high levels of uncertainty and stress, which negatively impact quality of life (QoL). We previously report
Externí odkaz:
https://doaj.org/article/233cf0b5fbc34f0aabb46aa064e637cf
Autor:
Anna Kokkinopoulou, Rachel McGowan, Yvonne Brogan, Julie Armstrong, Ioannis Pagkalos, Maria Hassapidou, Anthony Kafatos
Publikováno v:
Nutrients, Vol 14, Iss 7, p 1383 (2022)
Objective: Studies regarding the health effects of religious fasting have increased in the last decade. The aim of this research was to investigate the relationship between Christian Orthodox Church (COC) fasting recommendations and cancer risk, with
Externí odkaz:
https://doaj.org/article/7dee57bcbc5f46e58025c5712c3be270
Publikováno v:
Molecular Genetics and Metabolism. 138:107505
Autor:
Caroline Kilty, Rachel McGowan, Siobhan Cahill, Tony Foley, Brian Sweeney, Suzanne Cahill, Siobhan Fox, Bernadette Rock
Publikováno v:
Age and Ageing. 48:iii1-iii16
Background Currently, 1 in 10 people diagnosed with dementia in Ireland are aged under 65, this is termed “Younger Onset Dementia” (YOD). Though small in numbers these figures (4000 people) are increasing, and important differences exist between
Publikováno v:
Molecular Genetics and Metabolism. 135:286
Publikováno v:
PLoS ONE, Vol 16, Iss 6, p e0253018 (2021)
PLoS ONE
PLoS ONE, Vol 16, Iss 6 (2021)
PLoS ONE
PLoS ONE, Vol 16, Iss 6 (2021)
BackgroundMen with a newly diagnosed prostate cancer are often treated by surgery. The time window between cancer diagnosis and surgery causes high levels of uncertainty and stress, which negatively impact quality of life (QoL). We previously reporte
Autor:
Marta D. Van Loan, Michelle T. Barrack, Mitchell J. Rauh, Kristen L. Wood, Jeanne F. Nichols, Rachel McGowan, Joshua A. Cotter, Virginia Gray
Publikováno v:
Eating behaviors. 40
This cross-sectional study investigated associations between cognitive dietary restraint (CDR), energy, macronutrient and food group intake, menstrual function, and bone density in female adolescent endurance runners. Participants were forty female a