Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kathryn D. Moseley"'
Autor:
Teresa D. Douglas, Adrya Stembridge, Surekha Pendyal, Laura Jeffers, Jill Skrabal, Rani H. Singh, Shideh Mofidi, Helen McCune, Beth N. Ogata, Amy Cunningham, Frances Rohr, Debra Geary Hook, Kathryn D. Moseley, Dianne M. Frazier, Ann Wessel, Patricia L. Splett
Publikováno v:
Molecular Genetics and Metabolism. 118:72-83
Background In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency were published as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment
Publikováno v:
Pediatrics. 112:1575-1579
Objective. To assess the effects of 2 pharmacologic interventions (amino acid supplements) on the brain levels of phenylalanine (Phe) in adults with phenylketonuria (PKU). Methods. A prospective study was conducted in an outpatient treatment and foll
Publikováno v:
Molecular Genetics and Metabolism. 79:110-113
Six subjects with classical phenylketonuria (PKU) were treated with large neutral amino acid supplements (PreKUnil, Nilab, Dk) at 0.4g/kg/day in equally divided doses three times each day on an increased natural protein diet. All six subjects had low
Publikováno v:
CNS spectrums. 20(2)
ObjectivesTo evaluate the effects of tetrahydrobiopterin (BH4) on maladaptive behavior in patients with phenylketonuria (PKU).MethodsIn an effort to determine if BH4 has any effects on the central nervous system, we studied 10 individuals with PKU an
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
Publikováno v:
Pediatrics. 112(6 Pt 2)
To assess the effects of 2 pharmacologic interventions (amino acid supplements) on the brain levels of phenylalanine (Phe) in adults with phenylketonuria (PKU).A prospective study was conducted in an outpatient treatment and follow-up setting. The vo