Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ayla Evins"'
Autor:
Ayla Evins, Jill Mayhew, Tricia Cimms, Julie Whyte, Kathy Vong, Elizabeth Hribal, Christopher J. Evans, Andrew Grimm
Publikováno v:
Therapeutic Advances in Endocrinology and Metabolism, Vol 15 (2024)
Background: Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a glycogen debranching enzyme deficiency. Objectives: The purpose of this research was to collect data on the signs, symptoms, and impacts of GSD I
Externí odkaz:
https://doaj.org/article/d2948d174642459ab675f96df63e0945
Autor:
Ayla Evins, Tricia Cimms, Susan Blair, Julie Whyte, Maggie Paulich, Elizabeth Hribal, Christopher J Evans, Melanie Brandabur
Publikováno v:
Future Rare Diseases. 2
Aim: The purpose of this research was to collect caregiver-reported data on the burden of creatine transporter deficiency (CTD). Materials & methods: Following institutional review board approval, caregivers of individuals with CTD were recruited thr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::04e9f4000351ed4aa2453aca5240cfe4
https://doi.org/10.2217/frd-2022-0008
https://doi.org/10.2217/frd-2022-0008
Publikováno v:
Endocrine journal. 69(4)
The burden of disease of X-linked hypophosphatemia (XLH) in East Asia is poorly understood. This was a cross-sectional study using an online questionnaire to evaluate health-related quality of life (HRQOL) and disease complications in Japanese and Ko
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42ab34f5394fcd21d5b99cd217ac7ede
https://pubmed.ncbi.nlm.nih.gov/34732603
https://pubmed.ncbi.nlm.nih.gov/34732603
Autor:
Ayla Evins, Erik A. Imel, Melita Dvorak-Ewell, Agnès Linglart, Javier San Martin, Carolyn M. Macica, Alison Skrinar, Christina Theodore-Oklota
Publikováno v:
Journal of the Endocrine Society
Context X-linked hypophosphatemia (XLH) is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal abnormalities, and growth impairment. We aimed to understand the burden of disease of XLH across the lifespan. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daf6ff4758baf2f07adaba0a788ecaaf
http://europepmc.org/articles/PMC6595532
http://europepmc.org/articles/PMC6595532
Publikováno v:
Genetics in Medicine. 24:S102
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a316d0e0d408330976f0e12b7907f15
https://doi.org/10.1016/j.gim.2022.01.203
https://doi.org/10.1016/j.gim.2022.01.203
Publikováno v:
Molecular Genetics and Metabolism. 132:S79-S80
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f98d653e440f2c684b9383442705c34a
https://doi.org/10.1016/s1096-7192(21)00203-1
https://doi.org/10.1016/s1096-7192(21)00203-1