Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Laurie Bernstein"'
Autor:
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg
Publikováno v:
JIMD Reports, Vol 65, Iss 3, Pp 188-203 (2024)
Abstract Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management. In this follow
Externí odkaz:
https://doaj.org/article/f955a4ca03d540fd85954588043933a3
Autor:
Joyanna Hansen, Suzanne Hollander, Nicoletta Drilias, Sandra Van Calcar, Fran Rohr, Laurie Bernstein
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 83-89 (2020)
Abstract Background Phenylketonuria (PKU) is an inherited metabolic disorder affecting the conversion of phenylalanine (Phe) to tyrosine. Medical nutrition therapy, consisting of a Phe‐restricted diet with medical formula, is the primary treatment
Externí odkaz:
https://doaj.org/article/8c24adabc744474b8d1ca5c0dad75aff
Autor:
Júlio César Rocha, Heather Bausell, Amaya Bélanger-Quintana, Laurie Bernstein, Hülya Gökmen-Özel, Alexandra Jung, Anita MacDonald, Fran Rohr, Esther van Dam, Margret Heddrich-Ellerbrok
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100771- (2021)
Background: The metabolic dietitian/nutritionist (hereafter ‘dietitian’) plays an essential role in the nutritional management of patients with phenylketonuria (PKU), including those on pegvaliase. Currently, more educational support and clinical
Externí odkaz:
https://doaj.org/article/7da1310c6578481e9e90c62904657daa
Publikováno v:
Nutrients, Vol 12, Iss 10, p 3162 (2020)
Glutaric aciduria type 1 (GA-1) is a cerebral organic aciduria characterized by striatal injury and progressive movement disorder. Nutrition management shifted from a general restriction of intact protein to targeted restriction of lysine and tryptop
Externí odkaz:
https://doaj.org/article/978a1e2b630a4303975306db018bd110
Publikováno v:
Journal of Nutrition and Metabolism, Vol 2018 (2018)
Externí odkaz:
https://doaj.org/article/f5557910b46e4ce2a54a67b37cd3479e
Publikováno v:
Journal of Nutrition and Metabolism, Vol 2017 (2017)
Phenylketonuria is an inborn error of metabolism that historically has been treated with a strict phenylalanine-restricted diet where all foods are weighed and measured. This is cumbersome and difficult for patients and caregivers, especially patient
Externí odkaz:
https://doaj.org/article/cca24b59a69049de88e4dd81ddae3106
Autor:
Laurie Bernstein
Publikováno v:
The English Historical Review.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd48db67a27722f619ed629e9a0f0b5d
https://doi.org/10.1093/ehr/cead016
https://doi.org/10.1093/ehr/cead016
Autor:
Kimberly A. Kripps, Peter R. Baker, Aaina Kochar, Chelsey F. Stillman, Erica Wymore, Austin Larson, Laurie Bernstein, Michael Woontner, Heather E. Skillman, Casey Burns, Sommer Gaughan, Curtis R. Coughlin, Ellie G. Hendricks, Shawn E. McCandless, Johan L.K. Van Hove, Janet A. Thomas
Publikováno v:
Molecular Genetics and Metabolism. 133:231-241
One of the most vital elements of management for patients with inborn errors of intermediary metabolism is the promotion of anabolism, the state in which the body builds new components, and avoidance of catabolism, the state in which the body breaks
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d22268b141dd68aaddaec33f7f6f60b
https://doi.org/10.1016/j.ymgme.2021.04.007
https://doi.org/10.1016/j.ymgme.2021.04.007
Autor:
Nicoletta Drilias, Fran Rohr, Sandra C. Van Calcar, Joyanna Hansen, Laurie Bernstein, Suzanne Hollander
Publikováno v:
JIMD Reports
JIMD Reports, Vol 53, Iss 1, Pp 83-89 (2020)
JIMD Reports, Vol 53, Iss 1, Pp 83-89 (2020)
Background Phenylketonuria (PKU) is an inherited metabolic disorder affecting the conversion of phenylalanine (Phe) to tyrosine. Medical nutrition therapy, consisting of a Phe‐restricted diet with medical formula, is the primary treatment for PKU.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5daf8a5c654395acf753f6e06de3182b
http://europepmc.org/articles/PMC7203646
http://europepmc.org/articles/PMC7203646
Autor:
Laurie Bernstein, Joyanna Hansen, Christian Kogelmann, Margret Ellerbrok, Maria Giżewska, Sommer Gaughan, Julio Cesar Rocha, Amaya Belanger-Quintana, Fran Rohr
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Laurie Bernstein,1,2 Joyanna Hansen,3 Christian Kogelmann,4 Margret Ellerbrok,4 Maria Gizewska,5 Sommer Gaughan,6 Julio Cesar Rocha,7â 9 Amaya Belanger,10 Fran Rohr2 1Section of Clinical Genetics and Metabolism, Department of Pediatrics, Univers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9b3d3a58153bf4c6d8ae3a76caa0c5
https://www.dovepress.com/normalizing-diet-in-individuals-with-phenylketonuria-treated-with-pegv-peer-reviewed-fulltext-article-NDS
https://www.dovepress.com/normalizing-diet-in-individuals-with-phenylketonuria-treated-with-pegv-peer-reviewed-fulltext-article-NDS