Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Phyllis B. Acosta"'
Autor:
Shideh Mofidi, Kathryn Moseley, Jerry Vockley, Phyllis B. Acosta, Rani H. Singh, Beth N. Ogata, Amy Cunningham, Fran Rohr, Kathleen Huntington, Dianne M. Frazier, Sandra C. Van Calcar, Patricia L. Splett
Publikováno v:
Genetics in Medicine
The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4ec1df052a045b7f379ec78a66b6739
http://europepmc.org/articles/PMC3918542
http://europepmc.org/articles/PMC3918542
Autor:
Antonio Velázquez, Marvin E. Miller, Laurie Bernstein, Joyce E. Fox, Alan S. Ryan, Georgianne L. Arnold, Vyonne Lewis, Phyllis B. Acosta, Barbara J. Marriage, Steven Yannicelli, Magda Plewinska
Publikováno v:
Molecular Genetics and Metabolism. 86:448-455
Background Poor growth has been described in patients with urea cycle enzyme defects treated with protein-restricted diets, while protein status is seldom reported. Objective To assess the effects of nutritional therapy with a medical food on growth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1344635f960413c95c3054e19025ea6e
https://doi.org/10.1016/j.ymgme.2005.08.012
https://doi.org/10.1016/j.ymgme.2005.08.012
Autor:
Rani H. Singh, Louis J. Elsas, Shideh Mofidi, Phyllis B. Acosta, Robert D. Steiner, Steven Yannicelli
Publikováno v:
Genetics in Medicine. 6:96-101
Purpose: The purpose of the study was to determine the incidence of iron deficiency in children undergoing therapy for phenylketonuria using serum transferrin receptor and ferritin concentrations. Methods: A 1-year study was conducted in 37 children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c4df6d56c34322c1ce5fa78e08e1a02
https://doi.org/10.1097/01.gim.0000117335.50541.f3
https://doi.org/10.1097/01.gim.0000117335.50541.f3
Autor:
Sonja A. Rasmussen, Kathryn D. Moseley, Chester B. Whitley, Steven Yannicelli, Anne R. Pariser, Lata S. Nerurkar, Uma M. Reddy, Susan E. Waisbren, Kathleen Huntington, Olaf Bodamer, Jerry Vockley, Beth N. Ogata, Kathryn M. Camp, Amy Cunningham, Uta Lichter-Konecki, Paul M. Coates, Frances Rohr, Cary O. Harding, John H. Ferguson, Dianne M. Frazier, Mary Lou Lindegren, R. Rodney Howell, Justin M. Young, Tiina K. Urv, Christine Brown, Nenad Blau, Anita MacDonald, Sandra Sirrs, Christine Chang, Dorothy K. Grange, Francjan J. van Spronsen, Suyash Prasad, Shideh Mofidi, Gerard T. Berry, Deborah A. Bilder, Linda S. Weglicki, John J. Mitchell, Stephanie E. Stremer, Desirée A. White, Jeanine Utz, Danilo A. Tagle, Harvey L. Levy, Alberto Burlina, Rani H. Singh, Henrietta D. Hyatt-Knorr, Susan Thompson, Phyllis B. Acosta, Benjamin S. Wilfond, Thomas D. Franklin, Melissa A. Parisi, Michele A. Lloyd-Puryear, Indira Jevaji, Steven F. Dobrowolski, Gabriella Pridjian, Carol L. Greene, Andrew E. Mulberg, Stephen C. Groft, Barbara K. Burton, Jeffrey P. Brosco, Melissa L McPheeters, Christine M. Mueller, Kimberlee Michals Matalon
Publikováno v:
Molecular Genetics and Metabolism, 112(2), 87-122. ACADEMIC PRESS INC ELSEVIER SCIENCE
New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0b1d8cc86a1bbb1e2bb421d9b659f5
https://research.rug.nl/en/publications/2c456985-1526-4753-acf2-f4dc3000a167
https://research.rug.nl/en/publications/2c456985-1526-4753-acf2-f4dc3000a167
Autor:
Mary Jane Kennedy, Jane Breck, Steven Yannicelli, Richard Koch, Fran Rohr, Phyllis B. Acosta, Louis J. Eisas, Cristine Trahms, Laurie Bernstein, Rani H. Singh
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition. 33:253-259
Investigators in Italy and Spain have suggested that therapy for patients with phenylketonuria (PKU) may result in essential fatty acid (EFA) deficiency. Objectives of this study were to determine if the diets of patients with PKU in the United State
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190c5dc998b27bade7a3dac5246ee47c
https://doi.org/10.1097/00005176-200109000-00005
https://doi.org/10.1097/00005176-200109000-00005
Autor:
Alan S. Ryan, Phyllis B. Acosta
Publikováno v:
Journal of the American Dietetic Association. 97:783-786
This article examines functions of dietitians who provide nutrition services to patients with inherited metabolic disorders. A survey questionnaire was developed and pilot-tested in a sample of dietitians, revised, and mailed to all dietitians in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f37f6092aab2b7a1ebf30ee960fa605
https://doi.org/10.1016/s0002-8223(97)00192-2
https://doi.org/10.1016/s0002-8223(97)00192-2
Autor:
C. Azen, K Michals, L. Castiglioni, Phyllis B. Acosta, Frances Rohr, V. Austin, Elizabeth Wenz
Publikováno v:
European Journal of Pediatrics. 155:S165-S168
Maternal weight gain and intake of selected nutrients were correlated with plasma phenylalanine (Phe) concentrations and reproductive outcomes (in 150 and 142 subjects respectively) in the Maternal PKU Collaborative Study. Daily protein intake was ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca351ac624b98bc7f7d2186493a9654
https://doi.org/10.1007/pl00014239
https://doi.org/10.1007/pl00014239
Autor:
Phyllis B. Acosta, Steven Yannicelli
Publikováno v:
TOPICS IN CLINICAL NUTRITION. 10:48-72
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c79e1f2b19191fd09bf0ee83802d19d
https://doi.org/10.1097/00008486-199503000-00010
https://doi.org/10.1097/00008486-199503000-00010
Publikováno v:
Clinics in Perinatology. 22:1-14
Newborn screening programs have resulted in normal development primarily in women with phenylketonuria, galactosemia, and homocystinuria. These women are in their reproductive stages of life. They need specialized treatment resources for optimal feta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::858e9ddbf2078571b0478aec9d557ddb
https://doi.org/10.1016/s0095-5108(18)30298-7
https://doi.org/10.1016/s0095-5108(18)30298-7
Publikováno v:
Pediatrics. 112:1534-1536
Objective. The maternal phenylketonuria (PKU) syndrome is caused by high blood phenylalanine (Phe) levels during pregnancy, leading to a host of birth defects, especially microcephaly and congenital heart disease (CHD). For finding whether the matern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3827f2f8126466009ca676503b52c37c
https://doi.org/10.1542/peds.112.s4.1534
https://doi.org/10.1542/peds.112.s4.1534