Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Vera Anastasoaie"'
Autor:
Donald L. Schomer, Patricia E. Greenstein, Banu Ahtam, Vera Anastasoaie, P. Ellen Grant, Susan E. Waisbren, Matthew Brown, Onur Afacan, Gerard T. Berry, Sanjay P. Prabhu, Stephanie Petrides
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 43(6)
Classic galactosemia (OMIM# 230400) is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase deficiency. Newborn screening and prompt treatment with a galactose-free diet prevent the severe consequences of galactosemia, but c
Autor:
Vera Anastasoaie, Patricia E. Greenstein, Kalin Charette, Sanjay P. Prabhu, Carter R. Petty, Sai Merugumala, Susan E. Waisbren, Alexander P. Lin, Daniel Rodriguez, Donald L. Schomer
Publikováno v:
JIMD Reports ISBN: 9783662555859
Researchers hypothesized that in phenylketonuria (PKU) high brain phenylalanine (Phe) levels and low brain tyrosine (Tyr) levels affect neuropsychological functioning. However, traditional magnetic resonance spectroscopy (MRS) yielded uncertain resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11bf74b2fb39507d98d7a2692b7f0a50
https://europepmc.org/articles/PMC5509554/
https://europepmc.org/articles/PMC5509554/
Autor:
Yijun Li, Yiping Shen, Va Lip, Chao-Yu Guo, Susan E. Waisbren, Gerard T. Berry, David T. Miller, Catherine M. Gordon, Jennifer K. Gentile, Leah Hecht, Bai-Lin Wu, Inge Timmers, Estela Rubio-Gozalbo, Vera Anastasoaie, Donald L. Schomer, Frances Rohr, Nancy L. Potter, Nicolle Quinn, Amy Skinder-Meredith, Corrine K. Welt, Robert C. Green, Louis J. Elsas, Michael F. Murray, Harvey L. Levy, Patricia E. Greenstein, Bernadette M. Jansma, Roberta Jackson, Cynthia S. Gubbels, Kali D’Anna, Leslie Power, Ann Wessel, Rachel A. Tunick
Publikováno v:
Journal of Inherited Metabolic Disease, 32(2), 279-286. Wiley
BACKGROUND: Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both s
Autor:
Ann Wessel, S. Petrides, Susan E. Waisbren, Frances Rohr, Harvey L. Levy, David J. Harris, A. Ozonoff, Vera Anastasoaie, Matthew Brown
Publikováno v:
JIMD Reports ISBN: 9783662471715
Maternal phenylketonuria (MPKU) is a well-recognized complication of PKU and one of the most potent teratogenic syndromes of pregnancy. Virtually all offspring from untreated pregnancies in women with classic PKU have intellectual disabilities and mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a2963e2ba790ec5969ed35781ed0b8
https://europepmc.org/articles/PMC4470942/
https://europepmc.org/articles/PMC4470942/
Autor:
Gerard T. Berry, L. A. Batey, Frances Rohr, Corrine K. Welt, Catherine M. Gordon, Estela Rubio-Gozalbo, Vera Anastasoaie, Ann Wessel, Henry A. Feldman, C.-Y. Guo
Publikováno v:
Osteoporosis International, 24(2), 501-509. Springer-Verlag London Ltd.
This study evaluated bone health in adults with galactosemia. Associations between bone mineral density (BMD) and nutritional and biochemical variables were explored. Calcium level predicted hip and spine BMD, and gonadotropin levels were inversely a
Publikováno v:
Molecular genetics and metabolism. 95(1-2)
Variability of metabolic control in phenylketonuria (PKU) potentially affects cognitive outcome in early and continuously treated children with this condition. The possibility that homeostasis is more important than the absolute level of exposure to