Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Roa Sadat"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100313- (2023)
Externí odkaz:
https://doaj.org/article/76c464e30a854c449ded3b23d073cb4b
Autor:
Katharina V. Schulze, Shanker Swaminathan, Sharon Howell, Aarti Jajoo, Natasha C. Lie, Orgen Brown, Roa Sadat, Nancy Hall, Liang Zhao, Kwesi Marshall, Thaddaeus May, Marvin E. Reid, Carolyn Taylor-Bryan, Xueqing Wang, John W. Belmont, Yongtao Guan, Mark J. Manary, Indi Trehan, Colin A. McKenzie, Neil A. Hanchard
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
The edematous form of severe acute childhood malnutrition (ESAM) presents with more severe multi-organ dysfunction than non-edematous SAM (NESAM). Here the authors assess genome-wide DNA methylation in buccal cells of SAM children and find that ESAM
Externí odkaz:
https://doaj.org/article/84e6b256abe147388cbba5a420607002
Publikováno v:
Parkinsonism & Related Disorders. 93:111-113
Tyrosine hydroxylase (TH) deficiency is an autosomal recessive condition first described as a progressive, early-onset hypokinetic-rigid and dystonic syndrome that was responsive to levodopa. Here we present a child with developmental regression, pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1baa82855055eaa296a23801cf2dd1da
https://doi.org/10.1016/j.parkreldis.2021.04.020
https://doi.org/10.1016/j.parkreldis.2021.04.020
Autor:
Elizabeth D. Vengoechea, Reneé H. Moore, Michael J. Gambello, Arthur Hagar, Kevin Park, Rani H. Singh, Patricia L. Hall, Roa Sadat, Angela Wittenauer
Publikováno v:
Molecular Genetics and Metabolism. 129:20-25
The long-term consequences and need for therapy in children with short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBDD) identified via newborn screening (NBS) remains controversial. Initial clinical de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::527157d08aac8b5886513d6096e9237c
https://doi.org/10.1016/j.ymgme.2019.11.008
https://doi.org/10.1016/j.ymgme.2019.11.008
Autor:
Lisa Emrick, Roa Sadat
Publikováno v:
Neurologic clinics. 39(3)
Advances in genetic technology have decreased the cost and increased the accessibility of genetic testing, and introduced new therapeutic options for many genetic conditions. With new treatments available for previously untreatable neurogenetic condi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a07df2c804e8175821c9c1fad9a05596
https://pubmed.ncbi.nlm.nih.gov/34215382
https://pubmed.ncbi.nlm.nih.gov/34215382
Publikováno v:
Genetics in Medicine. 24:S140-S141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1281f8916496d05eb2713ac94113bb87
https://doi.org/10.1016/j.gim.2022.01.262
https://doi.org/10.1016/j.gim.2022.01.262
Autor:
Emanuele Barca, Darryl C. De Vivo, Ali Naini, Salvatore DiMauro, Brett H. Graham, Ruchi Masand, Neil A. Hanchard, Taraka R. Donti, Roa Sadat
Publikováno v:
Molecular Genetics and Metabolism. 118:28-34
Defects in the tricaboxylic acid cycle (TCA) are associated with a spectrum of neurological phenotypes that are often difficult to diagnose and manage. Whole-exome sequencing (WES) led to a rapid expansion of diagnostic capabilities in such disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f897fe56be10a482243f33ef3434627
https://doi.org/10.1016/j.ymgme.2016.03.004
https://doi.org/10.1016/j.ymgme.2016.03.004
Autor:
Aarti Jajoo, Liang Zhao, Thaddaeus May, John W. Belmont, Orgen Brown, Marvin Reid, Sharon Howell, Katharina V. Schulze, Neil A. Hanchard, Kwesi Marshall, Yongtao Guan, Nancy J. Hall, Carolyn Taylor-Bryan, Shanker Swaminathan, Colin A. McKenzie, Indi Trehan, Mark J. Manary, Roa Sadat, Xueqing Wang, Natasha C. Lie
Publikováno v:
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Edematous severe acute childhood malnutrition (edematous SAM or ESAM), which includes kwashiorkor, presents with more overt multi-organ dysfunction than non-edematous SAM (NESAM). Reduced concentrations and methyl-flux of methionine in 1-carbon metab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbc67faba847e77a75a71ccc0dc016d5
https://pubmed.ncbi.nlm.nih.gov/31857576
https://pubmed.ncbi.nlm.nih.gov/31857576