Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Teresa D Douglas"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance. Responders to BH4 may experience a reduction in certain n
Externí odkaz:
https://doaj.org/article/88497ffa8eb649afb6b9d71e24da3bc4
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 50-59 (2019)
Abstract Background Intake of large neutral amino acids (LNAA) may inhibit phenylalanine (PHE) transport across the blood brain barrier and assist with blood PHE control in patients with phenylketonuria (PKU). We evaluated the interrelationship betwe
Externí odkaz:
https://doaj.org/article/6d1fa543c98a4a05a187ca6aa1e17682
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100651- (2020)
Background: Distinguishing systemic metabolic disruptions in maple syrup urine disease (MSUD) beyond amino acid pathways is under-investigated, yet important to understanding disease pathology and treatment options. Methods: An adolescent female (15
Externí odkaz:
https://doaj.org/article/18638f2d5d164d9aa1ccb017a0104f62
Autor:
Rani H. Singh, Rosalynn B. Blair, Lindsay Ryan, Theresa Pringle, Jessica Williamson, Teresa D. Douglas
Publikováno v:
Molecular Genetics and Metabolism. 135:299-300
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad060cf3518848e5322cd7fee3426e53
https://doi.org/10.1016/j.ymgme.2022.01.087
https://doi.org/10.1016/j.ymgme.2022.01.087
Publikováno v:
JIMD Reports
JIMD Reports, Vol 50, Iss 1, Pp 50-59 (2019)
JIMD Reports, Vol 50, Iss 1, Pp 50-59 (2019)
Background Intake of large neutral amino acids (LNAA) may inhibit phenylalanine (PHE) transport across the blood brain barrier and assist with blood PHE control in patients with phenylketonuria (PKU). We evaluated the interrelationship between LNAA i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f01d964a9898fe9bf3c9cb8e90c0da
http://europepmc.org/articles/PMC6850973
http://europepmc.org/articles/PMC6850973
Autor:
Rani H. Singh, Teresa D. Douglas
OBJECTIVES: Urinary creatinine (UCr) excretion is a frequent protein metabolism marker, typically correlating directly to protein intake and muscle mass in healthy people. Because a standard PKU diet is low in intact protein (IP) with high intake of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57425482fd4c4b55f17b34765db4392a
https://europepmc.org/articles/PMC6811719/
https://europepmc.org/articles/PMC6811719/
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100651-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100651-(2020)
Background Distinguishing systemic metabolic disruptions in maple syrup urine disease (MSUD) beyond amino acid pathways is under-investigated, yet important to understanding disease pathology and treatment options. Methods An adolescent female (15 ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::588a287776ea9299c193b0090da48fb1
https://doi.org/10.1016/j.ymgmr.2020.100651
https://doi.org/10.1016/j.ymgmr.2020.100651
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9ecb47605fb5104ddda94eee911ec04
https://doi.org/10.1016/j.ymgme.2016.04.008
https://doi.org/10.1016/j.ymgme.2016.04.008
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance. Responders to BH4 may experience a reduction in certain nutrients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d3224615a5b4f1b477c61bfb90c9b7
https://doi.org/10.1186/s13023-018-0923-2
https://doi.org/10.1186/s13023-018-0923-2
Autor:
Rani H. Singh, Teresa D. Douglas
Publikováno v:
Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, Assessment, and Treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c80753e78dc648a57619a46a068529ba
https://doi.org/10.1093/acprof:oso/9780199398911.003.0038
https://doi.org/10.1093/acprof:oso/9780199398911.003.0038