Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Erica L. Wright"'
Autor:
Erica L. Wright, Peter R. Baker
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:e1561-e1568
Purpose Neonatal macrosomia is a known complication of maternal obesity and gestational diabetes, and it is a risk factor for obesity and diabetes in offspring. Amino acids and acylcarnitines are biomarkers for obesity in children and adults. These a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6db0919e565c2e634bc39596b2b4fa0d
https://doi.org/10.1210/clinem/dgz183
https://doi.org/10.1210/clinem/dgz183
Autor:
Johan L.K. Van Hove, David M. Mirsky, Leighann Sremba, Susan A. Berry, Erica L. Wright, David Watkins, David Ketteridge, Hoanh Nguyen, Shawn E. McCandless, Austin Larson, Kimberly A. Kripps, Peter R. Baker, David S. Rosenblatt
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(2)
Methionine synthase deficiency (cblG complementation group) is a rare inborn error of metabolism affecting the homocysteine re-methylation pathway. It leads to a biochemical phenotype of hyperhomocysteinemia and hypomethioninemia. The clinical presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a470ab5ae9bb30e6c27f532ae97e628
https://pubmed.ncbi.nlm.nih.gov/34625984
https://pubmed.ncbi.nlm.nih.gov/34625984
Publikováno v:
Genetics in Medicine. 12:S228-S241
Purpose: This article presents the rationale and design of the Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-up Study. Methods: This study is a collaboration of multi-site metabolic providers th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16377f0db223370d56fec897049c4ec
https://doi.org/10.1097/gim.0b013e3181fe5d50
https://doi.org/10.1097/gim.0b013e3181fe5d50
Autor:
Erica L. Wright
Publikováno v:
Nutrition Management of Inherited Metabolic Diseases ISBN: 9783319146201
The success of newborn screening for phenylketonuria (PKU) led to the expansion of newborn screening for other disorders, including many inborn errors of metabolism, thus preventing significant morbidity and mortality. Newborn screening is an integra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::031ca6e7a40233fed4075a82772ab7df
https://doi.org/10.1007/978-3-319-14621-8_2
https://doi.org/10.1007/978-3-319-14621-8_2
Autor:
Roberto Cerone, Kristina Cusmano-Ozog, Brendan C. Lanpher, Julie Neidich, Annet M. Bosch, Brett H. Graham, Mark H. Lipson, Natalie N. Owen, Georgianne L. Arnold, Pim Suwannarat, Antal Dezsofi, Paul A. Levy, Uta Lichter-Konecki, Lee-Jun C. Wong, Greg Enns, Denise Salazar, Erica L. Wright
Publikováno v:
Molecular genetics and metabolism, 106(4), 439-441. Academic Press Inc.
Introduction: 3-Methyl CoA carboxylase (3-MCC) deficiency is an inborn error of metabolism in the catabolism of the amino acid leucine. Original reports suggested this disorder was associated with significant neurological and biochemical effects. How
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a1bde60209fad88a65ca7fd8ce4d89d
https://pure.amc.nl/en/publications/outcome-of-infants-diagnosed-with-3methylcrotonylcoacarboxylase-deficiency-by-newborn-screening(500bba60-6ef5-4903-bde9-ed954f7e23cb).html
https://pure.amc.nl/en/publications/outcome-of-infants-diagnosed-with-3methylcrotonylcoacarboxylase-deficiency-by-newborn-screening(500bba60-6ef5-4903-bde9-ed954f7e23cb).html
Autor:
Edward V. Quadros, Sergey N. Fedosov, Jeffrey M. Sequeira, Shao-Chiang Lai, David Watkins, Luciana Hannibal, Renata C. Gallagher, David S. Rosenblatt, Erica L. Wright, Natascia Anastasio, Yasumi Nakayama, Sihe Wang, Donald W. Jacobsen
Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin-bound cobalamin (holo-TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/CD320, the gene for the recepto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dbeafc866df7e4a8ffa38c7bface8d2
https://europepmc.org/articles/PMC2909035/
https://europepmc.org/articles/PMC2909035/