Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Mary Sowa"'
Autor:
Krista Viau, Sommer Gaughan, Jessica Kopesky, Beth Ogata, Heather Saavedra, Mary Sowa, Erin MacLeod
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101147- (2024)
Background: Genetic Metabolic Dietitians International (GMDI) conducted a professional status survey of metabolic dietitians working in the United States to describe job satisfaction and establish salary and compensation benchmarks specific to metabo
Externí odkaz:
https://doaj.org/article/56b41dfb73be480c9cc6608c34ee8004
Publikováno v:
Nutrients, Vol 16, Iss 19, p 3244 (2024)
Background: Nutrition management for GSD Type I (GSDI; OMIM #232200, 232220) is complex, with the goal being to maintain euglycemia while minimizing metabolic derangements. Management guidelines were published in 2002 and 2014. However, there is limi
Externí odkaz:
https://doaj.org/article/7a261689d7624972a773646cc760be14
Autor:
Monica Boyer, Janette Skaar, Mary Sowa, Justin R. Tureson, Cristel C. Chapel-Crespo, Richard Chang
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100713- (2021)
Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels. Poorly controlled Phe levels in women of childbearing age are particularly worriso
Externí odkaz:
https://doaj.org/article/fed530e471ef49c2b7bf7a52f0e54a81
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract Isolated sulfite oxidase deficiency (ISOD) is a devastating, neurometabolic disorder caused by mutations in the SUOX gene necessary for the final step in the sulfur-containing amino acid catabolic pathway. Patients classically present in the
Externí odkaz:
https://doaj.org/article/5dc3f0231319469cb2fbfab167449cb2
Autor:
Mary Sowa
Publikováno v:
Nutrition Management of Inherited Metabolic Diseases ISBN: 9783030945091
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::276bb332d86b10695723b438b0c2e9d4
https://doi.org/10.1007/978-3-030-94510-7_26
https://doi.org/10.1007/978-3-030-94510-7_26
Autor:
Mary Sowa
Publikováno v:
Nutrition Management of Inherited Metabolic Diseases ISBN: 9783030945091
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::203505b8f8ba67e8b7ca22aa6a940f30
https://doi.org/10.1007/978-3-030-94510-7_21
https://doi.org/10.1007/978-3-030-94510-7_21
Autor:
Cristel C. Chapel-Crespo, Janette Skaar, Mary Sowa, Richard Chang, Monica Boyer, Justin R. Tureson
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100713-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels. Poorly controlled Phe levels in women of childbearing age are particularly worriso
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening v.7 2019
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Journal of Inborn Errors of Metabolism and Screening, Volume: 7, Article number: e20190001, Published: 27 JUN 2019
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Journal of Inborn Errors of Metabolism and Screening, Volume: 7, Article number: e20190001, Published: 27 JUN 2019
Isolated sulfite oxidase deficiency (ISOD) is a devastating, neurometabolic disorder caused by mutations in the SUOX gene necessary for the final step in the sulfur-containing amino acid catabolic pathway. Patients classically present in the neonatal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daa41442bafe7ce94a40cce89fe1c114
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100304
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100304
Autor:
Jessica Myers, Kees Schoonderwoerd, Dimitar Gavrilov, Debra S Regier, Jose E. Abdenur, Debra-Lynn Day-Salvatore, Cristel C. Chapel-Crespo, Haley Lynn, Maija R. Steenari, Danielle Starin, Mary Sowa
Publikováno v:
Molecular Genetics and Metabolism, 128(1-2), 113-121. Academic Press
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458c502a6b5e428e6712af5a72e36133
https://pure.eur.nl/en/publications/88d39603-6271-4988-9b13-ea42f96b2799
https://pure.eur.nl/en/publications/88d39603-6271-4988-9b13-ea42f96b2799
Autor:
Valeria Tiranti, Monica Boyer, Mary Sowa, I. Di Meo, Jose E. Abdenur, Maija R. Steenari, S. Eftekharian
Publikováno v:
Molecular genetics and metabolism. 124(1)
Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H2S) detoxification. Patients present in infancy with hypotonia, developmental delay, diarrhea, orthostat