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Akademický článek

NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center

Autor: Jelili Ojodu, Sikha Singh, Yvonne Kellar-Guenther, Careema Yusuf, Elizabeth Jones, Thalia Wood, Mei Baker, Marci K. Sontag

Publikováno v: International Journal of Neonatal Screening, Vol 4, Iss 1, p 1 (2017)

As newborn screening (NBS) programs in the US implement expanded screening panels, utilize emerging technologies and identify areas for improvement, the need to establish and maintain a community engagement based national technical assistance center

Externí odkaz: https://doaj.org/article/56eb60bc4422492bb5f488579a49e8f9

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Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A

Autor: Bradford D. Gessner, David M. Koeller, Thalia Wood, Carolyn Sue Richards, Monique A. Johnson

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

PURPOSE Infant mortality in Alaska is highest among Alaska Native people from Western/Northern Alaska, a population with a high prevalence of a genetic variant (c.1436C>T; The Arctic Variant) of carnitine palmitoyltransferase 1A (CPT1A). METHODS We p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cd071e3a2a64526efa68d91de2f93ae
https://doi.org/10.1038/gim.2015.197

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Association of a Genetic Variant of Carnitine Palmitoyltransferase 1A with Infections in Alaska Native Children

Autor: Bradford D. Gessner, Melanie B. Gillingham, Thalia Wood, David M. Koeller

Publikováno v: The Journal of Pediatrics. 163:1716-1721

Objective To evaluate whether the arctic variant (c.1436C→T) of carnitine palmitoyltransferase type 1A ( CPT1A ) is associated with a higher incidence of adverse health outcomes in Alaska Native infants and children. Study design We evaluated healt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0baa9760601a5013f401bb1a39b9b1ea
https://doi.org/10.1016/j.jpeds.2013.07.010

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Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants

Autor: William E. Lambert, Thalia Wood, Monique A. Johnson, Leanne Rien, Melanie B. Gillingham, David E. Sesser, Stephanie Birch, C. Sue Richards, Bradford D. Gessner, David M. Koeller, Cary O. Harding, Michael R. Skeels, Cheryl A. Hermerath

Publikováno v: The Journal of Pediatrics. 158:124-129

Objectives To use genotype analysis to determine the prevalence of the c.1436C→T sequence variant in carnitine palmitoyltransferase 1A (CPT1A) among Alaskan infants, and evaluate the sensitivity of newborn screening by tandem mass spectrometry (MS/

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe7b56d3d943ec0327c977626e01017
https://doi.org/10.1016/j.jpeds.2010.07.031

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Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant

Autor: Melanie B. Gillingham, Bradford D. Gessner, Stephanie Birch, David M. Koeller, Thalia Wood

Publikováno v: Pediatrics. 126(5)

OBJECTIVE: Alaska Native and other circumpolar indigenous populations have historically experienced high infant mortality rates, for unknown reasons. Through routine newborn screening, Alaskan and Canadian indigenous infants have been found to have a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b3c3aac00dab994138261759d2bd3a0
https://pubmed.ncbi.nlm.nih.gov/20937660

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