Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Cynthia Freehauf"'
Autor:
Peggy Emmett, Marisa W. Friederich, Laura Pyle, Uwe Christians, Hua Jiang, Sarah P. Young, Cynthia Freehauf, Thomas K. Henthorn, Kenneth N. Maclean, Johan L.K. Van Hove, Tina M. Cowan, Kerrie L. Moreau, Geralyn Creadon-Swindell, Sally P. Stabler, Elaine B. Spector, Loren D.M. Pena, Kathryn E. Kronquist, Janet A. Thomas, Michael F. Wempe, Michelle Hite, Mary J Harrington, Can Ficicioglu
Publikováno v:
Journal of inherited metabolic disease. 42(3)
Study objective A phase 1/2 clinical trial was performed in individuals with cystathionine β synthase (CBS) deficient homocystinuria with aims to: (a) assess pharmacokinetics and safety of taurine therapy, (b) evaluate oxidative stress, inflammation
Autor:
Kristin Lindstrom, Jill L. Brodsky, Paige Kaplan, Cynthia Freehauf, Michael A. Levine, David R. Weber, Curtis R. Coughlin, Can Ficicioglu
Publikováno v:
Molecular Genetics and Metabolism. 117:351-354
Homocystinuria (HCU) due to deficiency of cystathionine beta-synthetase is associated with increased plasma levels of homocysteine and methionine and is characterized by developmental delay, intellectual impairment, ocular defects, thromboembolism an
Publikováno v:
JIMD Reports ISBN: 9783662563588
Extreme hyperhomocysteinemia with low cystathionine and cysteine is virtually diagnostic of cystathionine beta-synthase (CBS) deficiency since remethylation defects and hypermethioninemia due to other inborn errors cause elevated serum cystathionine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f20dcdeaf56d8ce8e5e0c1c86ab7a98
https://europepmc.org/articles/PMC5740052/
https://europepmc.org/articles/PMC5740052/
Publikováno v:
Topics in Clinical Nutrition. 26:158-164
Autor:
Dexiang Gao, Katherine Isacks, Kiersten Amos, Laurie Bernstein, Cynthia Freehauf, Janet A. Thomas
Publikováno v:
Topics in Clinical Nutrition. 24:341-346
Autor:
Cynthia Freehauf
Publikováno v:
Nutrition Management of Inherited Metabolic Diseases ISBN: 9783319146201
Genes are short segments of DNA that carry information to make cellular proteins necessary for life. Mutations are heritable changes in the DNA nucleotide sequence of a gene. There are three broad categories of mutations: substitutions, insertions, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::564ab973012f89e16d39c442917acd4b
https://doi.org/10.1007/978-3-319-14621-8_1
https://doi.org/10.1007/978-3-319-14621-8_1
Autor:
Sabrina Sacconi, Janet Thoma, Salvatore DiMauro, Anne Chun Hui Tsai, Cynthia Freehauf, Leonardo Salviati
Publikováno v:
American Journal of Medical Genetics. :195-198
Mutations in SURF1, a gene involved in cytochrome-c oxidase (COX) assembly, cause COX deficiency and Leigh Syndrome (LS). Typical presentation is in the first year of life, with failure to thrive, psychomotor regression, ataxia, signs of brainstem dy
Autor:
Cynthia Freehauf, Johan L.K. Van Hove, Sommer M Myers, Laurie Bernstein, Kristel Vande Kerckhove
Publikováno v:
Molecular Genetics and Metabolism. 97:1-3
Many episodes of metabolic decompensation are triggered by catabolism. Catabolism is a physiologic state in which the body uses internal energetic fuels. It is evoked by lack of nutrition and sufficient calories and enhanced by physiological stressor
Publikováno v:
Molecular genetics and metabolism. 108(1)
To study the impact of geographic access to care on metabolic control and compliance in phenylketonuria (PKU).Phenylalanine (Phe) levels and number of samples obtained were abstracted from a data base of 76 patients age21 years and compared for age,
Autor:
Amy K. Keating, Sally P. Stabler, Kenneth N. Maclean, Johan L.K. Van Hove, Hua Jiang, Gary Brodsky, Janet A. Thomas, Cynthia Freehauf, Robert H. Allen, Douglas K. Graham
Publikováno v:
Molecular genetics and metabolism. 103(4)
Cystathionine beta-synthase (CBS) deficient homocystinuria (HCU) is an inherited metabolic defect that if untreated, typically results in cognitive impairment, connective tissue disturbances, atherosclerosis and thromboembolic disease. In recent year