Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Shoshana Shendelman"'
Autor:
Jason A. Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Evan Bailey, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 7, Iss 1, Pp 1-13 (2023)
Abstract Background Classic Galactosemia (CG) is a rare, autosomal recessive condition. Newborn screening and a timely galactose-restricted diet can resolve acute symptoms and decrease fatalities, but significant chronic, progressive morbidities rema
Externí odkaz:
https://doaj.org/article/ac73561b1efa45a78205704f4a2e75de
Autor:
Evan Bailey, Jason Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100924- (2024)
Externí odkaz:
https://doaj.org/article/5a10f797663a4accb677ce12b14df16e
Autor:
Yi Zhu, Amanda G. Lobato, Adriana P. Rebelo, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao, Sheyum Syed, Christopher Yanick, Mario Saporta, Michael Shy, Riccardo Perfetti, Shoshana Shendelman, Stephan Züchner, R. Grace Zhai
Publikováno v:
JCI Insight, Vol 8, Iss 10 (2023)
Sorbitol dehydrogenase (SORD) deficiency has been identified as the most frequent autosomal recessive form of hereditary neuropathy. Loss of SORD causes high sorbitol levels in tissues due to the inability to convert sorbitol to fructose in the 2-ste
Externí odkaz:
https://doaj.org/article/4657417178b445e989e14adc2d9805e9
Autor:
Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant
Externí odkaz:
https://doaj.org/article/6b5fca28cd5c46cc9feac38173f94204
Autor:
Cecile Martinat, Shoshana Shendelman, Alan Jonason, Thomas Leete, M Flint Beal, Lichuan Yang, Thomas Floss, Asa Abeliovich
Publikováno v:
PLoS Biology, Vol 2, Iss 11, p e327 (2004)
The hallmark of Parkinson's disease (PD) is the selective loss of dopamine neurons in the ventral midbrain. Although the cause of neurodegeneration in PD is unknown, a Mendelian inheritance pattern is observed in rare cases, indicating a genetic fact
Externí odkaz:
https://doaj.org/article/31721bec296f4de0bc37b33e4b2b598a
Publikováno v:
PLoS Biology, Vol 2, Iss 11, p e362 (2004)
Parkinson's disease (PD) pathology is characterized by the degeneration of midbrain dopamine neurons (DNs) ultimately leading to a progressive movement disorder in patients. The etiology of DN loss in sporadic PD is unknown, although it is hypothesiz
Externí odkaz:
https://doaj.org/article/97889ad0b60b44d9bfa0dcea98bc54c9
Publikováno v:
Molecular Genetics and Metabolism. 138:107386
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::135346568517e4c1c7021d8cf8a11da3
https://doi.org/10.1016/j.ymgme.2023.107386
https://doi.org/10.1016/j.ymgme.2023.107386
Autor:
Riccardo Perfetti, Ayesha Ahmad, Han Phan, Janet Thomas, Francesca Lawson, Evan Bailey, Laura Saltonstall, Shoshana Shendelman
Publikováno v:
Molecular Genetics and Metabolism. 135:291-292
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e10a9c06a095500c84551c9ebe9dbae
https://doi.org/10.1016/j.ymgme.2022.01.073
https://doi.org/10.1016/j.ymgme.2022.01.073
Autor:
Riccardo Perfetti, Evan Bailey, Francesca Lawson, Stella Wang, Laura Saltonstall, Mandy Krumnow, Shoshana Shendelman
Publikováno v:
Molecular Genetics and Metabolism. 135:292
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1ea39154017872a9382339d0481b8db
https://doi.org/10.1016/j.ymgme.2022.01.074
https://doi.org/10.1016/j.ymgme.2022.01.074
Publikováno v:
Genetics in Medicine. 24:S336
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38bac5021bfd3b207f649b694a1d112c
https://doi.org/10.1016/j.gim.2022.01.556
https://doi.org/10.1016/j.gim.2022.01.556