Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Emily Shelkowitz"'
Autor:
Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Nonketotic hyperglycinemia (NKH) is a severe neurometabolic disorder characterized by increased glycine levels. Current glycine reduction therapy uses high doses of sodium benzoate. The ketogenic diet (KD) may represent an alterna
Externí odkaz:
https://doaj.org/article/9af194b7d7c7450f938a5780e5345a8f
Autor:
Dayebgadoh Gerald, Silvia Tortorelli, Amy White, Dawn Peck, Gisele Pino, April Studinski, Jason Eckerman, Bimal Chaudhari, Betsy Schmalz, Lance Rodan, Angela Sun, Emily Shelkowitz, Matthew Schultz, Devin Oglesbee, Dimitar Gavrilov, Patricia Hall, Dietrich Matern
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100004- (2023)
Externí odkaz:
https://doaj.org/article/67014a04d23645f199979537b529cca9
Autor:
Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/dd79b4bca7bd44dcb0e04befaa5c0737
Publikováno v:
American Journal of Medical Genetics Part A. 188:2147-2152
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2890f337556c43f59fa2f5390847b66c
https://doi.org/10.1002/ajmg.a.62726
https://doi.org/10.1002/ajmg.a.62726
Autor:
Andrea Cortes Fernandez, Mary Kate LoPiccolo, Emily Shelkowitz, Sommer Gaughan, Shikha Sundaram, Peter Baker
Publikováno v:
Molecular Genetics and Metabolism. 138:107400
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d154faad32e2fa8a610b7816637ab9ec
https://doi.org/10.1016/j.ymgme.2023.107400
https://doi.org/10.1016/j.ymgme.2023.107400
Autor:
Emily Shelkowitz, Marie G. Gantz, Ty A. Ridenour, Ann O. Scheimann, Theresa Strong, Jessica Bohonowych, Jessica Duis
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(5)
Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypotonia and poor feeding in infancy which progresses to hyperphagia in early-mid childhood, as well as developmental delays, a spectrum of behavioral and psychiatric concerns, endoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::899ce7ab257033c64211e2b9d261e48d
https://pubmed.ncbi.nlm.nih.gov/35098642
https://pubmed.ncbi.nlm.nih.gov/35098642
Publikováno v:
American Journal of Medical Genetics Part A. 179:2263-2271
Heterozygous loss of function variants in the IRF2BPL are a newly described cause of neurodevelopmental disabilities and epilepsy. As of 2019, fewer than 20 patients have been described in the published literature. This article reports an additional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::147eb6071eeb296f00d9b0735782eb69
https://doi.org/10.1002/ajmg.a.61328
https://doi.org/10.1002/ajmg.a.61328
Autor:
Ting Chen, Austin Larson, Marisa W. Friederich, David M. Mirsky, Johan L.K. Van Hove, Lee-Jun C. Wong, Emily Shelkowitz, Kaz M. Knight, Yue Wang
Publikováno v:
Mitochondrion
Diagnosing complex V deficiencies caused by new variants in mitochondrial DNA is challenging due to the rarity, phenotypic diversity, and limited functional assessments. We describe a child with the m.9032T > C variant in MT-ATP6 encoding p.(Leu169Pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::007ee2e933e5cafef8e53290b747afbd
https://pubmed.ncbi.nlm.nih.gov/32931937
https://pubmed.ncbi.nlm.nih.gov/32931937
Publikováno v:
Journal of child neurology. 35(2)
Objectives:To report 2 additional cases of pyruvate dehydrogenase complex deficiency with reversible deep gray matter lesions following initiation of ketogenic diet and to perform a literature review of serial imaging in patients with pyruvate dehydr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ced0139415675d7def27deb9330c6b2
https://pubmed.ncbi.nlm.nih.gov/31665995
https://pubmed.ncbi.nlm.nih.gov/31665995
Publikováno v:
BMC Palliative Care
Background The death of a newborn is a traumatic life changing event in the lives of parents. We hypothesized that bereaved parents of newborn infants want to have choices in the personal care of their infant at the end of life. Methods Parents who h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebfd51f08863be1b295b5c62341d13b6
https://pubmed.ncbi.nlm.nih.gov/26626572
https://pubmed.ncbi.nlm.nih.gov/26626572