Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Cayla Sudano"'
Autor:
Steven F. Dobrowolski, Yu Leng Phua, Irina L. Tourkova, Cayla Sudano, Jerry Vockley, Quitterie C. Larrouture, Harry C. Blair
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 446-452 (2022)
Abstract Osteopenia is an under‐investigated clinical presentation of phenylalanine hydroxylase (PAH)‐deficient phenylketonuria (PKU). While osteopenia is not fully penetrant in human PKU, the Pahenu2 mouse is universally osteopenic and ideal to
Externí odkaz:
https://doaj.org/article/07e8c6faa3d54d05b9e4db6c6780f1ec
Autor:
Steven F. Dobrowolski, Yu Leng Phua, Irina L. Tourkova, Cayla Sudano, Jerry Vockley, Quitterie C. Larrouture, Harry C. Blair
Publikováno v:
JIMD Reports. 63:446-452
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::104f0c6bb07b31a3de95287958e940f1
https://doi.org/10.1002/jmd2.12308
https://doi.org/10.1002/jmd2.12308
Autor:
Steven F. Dobrowolski, Yu Leng Phua, Cayla Sudano, Kayla Spridik, Pascal O. Zinn, Yudong Wang, Sivakama Bharathi, Jerry Vockley, Eric Goetzman
Publikováno v:
Molecular Genetics and Metabolism. 136:38-45
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f16bfc35b1f1b92e61f216c8739f8abe
https://doi.org/10.1016/j.ymgme.2022.03.004
https://doi.org/10.1016/j.ymgme.2022.03.004
Autor:
Eric S. Goetzman, Irina L. Tourkova, Harry C. Blair, Steven F. Dobrowolski, Kayla Spridik, Jerry Vockley, Yu Leng Phua, Cayla Sudano
Publikováno v:
Molecular Genetics and Metabolism. 132:173-179
Osteopenia occurs in a subset of phenylalanine hydroxylase (PAH) deficient phenylketonuria (PKU) patients. While osteopenia is not fully penetrant in patients, the Pahenu2 classical PKU mouse is universally osteopenic, making it an ideal model of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f7efd0cafd691ce7d393027897f331e
https://doi.org/10.1016/j.ymgme.2021.01.014
https://doi.org/10.1016/j.ymgme.2021.01.014
Autor:
Cayla Sudano, Quitterie C. Larrouture, Irina L. Tourkova, Harry C. Blair, Steven F. Dobrowolski
Publikováno v:
Organogenesis
Osteopenia is common in phenylalanine hydroxylase deficient phenylketonuria (PKU). PKU is managed by limiting dietary phenylalanine. Osteopenia in PKU might reflect a therapeutic diet, with reduced bone forming materials. However, osteopenia occurs i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfaa67e1b884e34384e378d75e93d5cb
https://pubmed.ncbi.nlm.nih.gov/34432558
https://pubmed.ncbi.nlm.nih.gov/34432558
Autor:
Cayla Sudano, Sivakama S. Bharathi, Yu Leng Phua, Pascal O. Zinn, Steven F. Dobrowolski, Jerry Vockley, Eric S. Goetzman, Yudong Wang, Kayla Spridik
Publikováno v:
Molecular genetics and metabolism.
Classical phenylketonuria (PKU, OMIM 261600) owes to hepatic deficiency of phenylalanine hydroxylase (PAH) that enzymatically converts phenylalanine (Phe) to tyrosine (Tyr). PKU neurologic phenotypes include impaired brain development, decreased myel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28bce77216347cdf2937996d88bcb86e
https://pubmed.ncbi.nlm.nih.gov/33846068
https://pubmed.ncbi.nlm.nih.gov/33846068
Autor:
Steven F, Dobrowolski, Cayla, Sudano, Yu Leng, Phua, Irina L, Tourkova, Kayla, Spridik, Eric S, Goetzman, Jerry, Vockley, Harry C, Blair
Publikováno v:
Mol Genet Metab
Osteopenia occurs in a subset of phenylalanine hydroxylase (PAH) deficient phenylketonuria (PKU) patients. While osteopenia is not fully penetrant in patients, the Pah(enu2) classical PKU mouse is universally osteopenic, making it an ideal model of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::59d9bec850e653e1162bd85ac2286775
https://pubmed.ncbi.nlm.nih.gov/33602601
https://pubmed.ncbi.nlm.nih.gov/33602601