Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Rebecca Riba‐Wolman"'
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 85-90 (2021)
Abstract Ketone production is a physiological phenomenon that occurs to avoid irreversible neurological damage from hypoglycemia, thereby serving as a marker of metabolic stress. The primary ketone body, beta‐hydroxybutyrate (BHB), guides the diagn
Externí odkaz:
https://doaj.org/article/284e2d5fcf3746a48d384b3fe11af57a
Autor:
Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John Mitchell
Publikováno v:
Nutrients, Vol 13, Iss 11, p 3828 (2021)
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney,
Externí odkaz:
https://doaj.org/article/49373e0a313c4a1bbb2b3940a73fdda6
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 11, Iss C, Pp 31-34 (2016)
DICER1, a member of the ribonuclease III (RNase III) family, is known to play an important role in the post-transcriptional regulation of gene expression and germline mutations have been associated with a familial tumor susceptibility syndrome. In th
Externí odkaz:
https://doaj.org/article/c1388e7411b443048576295116e3d750
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Ketone production is a physiological phenomenon that occurs during beta-oxidation of free fatty acids. Distinguishing physiologic ketosis from pathologic over-production/underutilization of ketones is critical as part of the diagnostic eva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ce716ef975e2ab6849a17d4d6eaddda
https://doi.org/10.1515/jpem-2022-0589
https://doi.org/10.1515/jpem-2022-0589
Autor:
William A, Lambert, Mitch, Paro, Emanuela, Pinci, Markus J, Bookland, Jonathan E, Martin, Rebecca, Riba-Wolman, Laura, McKay, David S, Hersh
Publikováno v:
Journal of Neurosurgery: Pediatrics. 29:580-589
OBJECTIVE Central diabetes insipidus (DI) is frequently identified preoperatively and/or postoperatively in patients with sellar or parasellar lesions. Early diagnosis and effective perioperative management of central DI is critical to minimize disru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbebf03f4ea8cded2c505641913a08b5
https://doi.org/10.3171/2022.1.peds21469
https://doi.org/10.3171/2022.1.peds21469
Publikováno v:
JIMD Reports
JIMD Reports, Vol 62, Iss 1, Pp 85-90 (2021)
JIMD Reports, Vol 62, Iss 1, Pp 85-90 (2021)
Ketone production is a physiological phenomenon that occurs to avoid irreversible neurological damage from hypoglycemia, thereby serving as a marker of metabolic stress. The primary ketone body, beta‐hydroxybutyrate (BHB), guides the diagnostic eva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbb02948bf6deec11bf34a878bf742f
http://europepmc.org/articles/PMC8574180
http://europepmc.org/articles/PMC8574180
Autor:
A. Rossi, Heather Saavedra, Philippe Labrune, Vassili Valayannopoulos, Ayesha Ahmad, Nerea López Maldonado, Terry G J Derks, Sarah C. Grünert, David Rodriguez-Buritica, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, John J. Mitchell, Rupal Naik Gupta, Foekje de Boer, María L. Couce
Publikováno v:
Nutrients, Vol 13, Iss 3828, p 3828 (2021)
Nutrients
Nutrients
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d4565a19f5564200028a2a927bb03d
http://hdl.handle.net/11588/876032
http://hdl.handle.net/11588/876032
Autor:
David F. Rodriguez-Buritica, Ayesha Ahmad, Maria-Luz Couce Pico, Terry G. Derks, John Mitchell, Rebecca Riba-Wolman, David A. Weinstein, Connie Lee, Vassili Valayannopoulos, Eric Crombez
Publikováno v:
Molecular Genetics and Metabolism. 135:296
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dccd60467ea2104f09f2cbac7d948b22
https://doi.org/10.1016/j.ymgme.2022.01.081
https://doi.org/10.1016/j.ymgme.2022.01.081
Autor:
Rebecca Riba-Wolman, Whei Ying Lim
Publikováno v:
Clinical Endocrinology. 92:179-181
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c58e811db32a7e908caae10cae3712ce
https://doi.org/10.1111/cen.14125
https://doi.org/10.1111/cen.14125
Autor:
Christine Finck, Michael W Canfarotta, Rebecca Riba-Wolman, Andrea D. Orsey, Fabiola Balarezo
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 11, Iss C, Pp 31-34 (2016)
DICER1, a member of the ribonuclease III (RNase III) family, is known to play an important role in the post-transcriptional regulation of gene expression and germline mutations have been associated with a familial tumor susceptibility syndrome. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5d50bfcc0fae4644c99a45541cc092