Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sarah Herd"'
Autor:
Ghada Hijazi, Nisha Pai, Laura L. Nagy, Sarah Herd, Jolynn Dickson, Maya Ram, Michal Inbar-Feigenberg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Background: Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF)
Externí odkaz:
https://doaj.org/article/112d1a8b82a147dbb799f20ac2ab0e5f
Autor:
Laura Nagy, Ghada Hijazi, Sarah Herd, Maya Ram, Jolynn Dickson, Michal Inbar-Feigenberg, Nisha Pai
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Background: Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d381b396d8d3488437a03dbd2f704eb8
https://pubmed.ncbi.nlm.nih.gov/31844626
https://pubmed.ncbi.nlm.nih.gov/31844626
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background Autoimmune Syndrome Induced by Adjuvants (ASIA) is a concept introduced by Shoenfeld to group various disease entities believed to be triggered by an infection, silicone exposure or other external stimuli. A causal link between th
Externí odkaz:
https://doaj.org/article/15f240e1bccc415c8108190e88bc9fef
Autor:
Carly Mutch, Eduard A. Struys, Valerie Austin, Melissa T. Carter, Sarah Herd, Saadet Mercimek-Mahmutoglu, Muhammad Mahajnah, Dawn Corderio
Publikováno v:
Pediatric Neurology, 60, 60-65. Elsevier Inc.
Mahajnah, M, Corderio, D, Austin, V, Herd, S, Mutch, C, Carter, M, Struys, E & Mercimek-Mahmutoglu, S 2016, ' A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1 ', Pediatric Neurology, vol. 60, pp. 60-65 . https://doi.org/10.1016/j.pediatrneurol.2016.03.008
Mahajnah, M, Corderio, D, Austin, V, Herd, S, Mutch, C, Carter, M, Struys, E & Mercimek-Mahmutoglu, S 2016, ' A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1 ', Pediatric Neurology, vol. 60, pp. 60-65 . https://doi.org/10.1016/j.pediatrneurol.2016.03.008
Background Pyridoxine-dependent epilepsy (PDE) is caused by mutations in ALDH7A1 (PDE- ALDH7A1 ), which encodes α-aminoadipic semialdehyde dehydrogenase in the lysine catabolic pathway, resulting in accumulation of α-aminoadipic-acid-semialdehyde.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6811510fe1b6a565e3d629abf5a135b
https://pubmed.ncbi.nlm.nih.gov/27212567
https://pubmed.ncbi.nlm.nih.gov/27212567
Publikováno v:
The FASEB Journal. 23
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c2462f004deda82105468df0786fabe
https://doi.org/10.1096/fasebj.23.1_supplement.101.2
https://doi.org/10.1096/fasebj.23.1_supplement.101.2
Publikováno v:
Journal of the American Dental Association (1939). 138(10)
Background The authors conducted an in vivo study to determine if low-speed handpiece motors can become contaminated with oral flora when used with prophylaxis angles. Methods This crossover study involved 20 subjects, two types of handpieces and thr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2ad2d991f195083b34706be28790ab
https://pubmed.ncbi.nlm.nih.gov/17908851
https://pubmed.ncbi.nlm.nih.gov/17908851
Publikováno v:
Molecular Vision
Purpose Posterior polymorphous corneal dystrophy (PPCD) is a genetically heterogeneous autosomal dominant condition which maps to the pericentromeric region of chromosome 20. Mutations in the VSX1 transcription factor have been reported in patients a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::640102137030f19d4674464b67cced53
https://pubmed.ncbi.nlm.nih.gov/18253095
https://pubmed.ncbi.nlm.nih.gov/18253095
Autor:
Mansoor Sarfarazi, Gail Billingsley, Sarah Herd, Colin E. Willoughby, Elise Heon, Yvonne M. Buys, Louie Loh Yen Chan, Nima Noordeh, Alex V. Levin, Graham E. Trope
Publikováno v:
Investigative ophthalmologyvisual science. 45(9)
Juvenile open-angle glaucoma (JOAG) differs from primary open-angle glaucoma in that it is usually a more severe phenotype and has an earlier age of onset. Optineurin was recently associated with a variant of POAG that is characterized by intraocular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::001c3ad4aa1a864cbd51693e23f60055
https://pubmed.ncbi.nlm.nih.gov/15326130
https://pubmed.ncbi.nlm.nih.gov/15326130
Autor:
Sander Beel, Sarah Herdewyn, Raheem Fazal, Mathias De Decker, Matthieu Moisse, Wim Robberecht, Ludo Van Den Bosch, Philip Van Damme
Publikováno v:
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background TAR DNA binding protein 43 (TDP-43) is the main disease protein in most patients with amyotrophic lateral sclerosis (ALS) and about 50% of patients with frontotemporal dementia (FTD). TDP-43 pathology is not restricted to patients
Externí odkaz:
https://doaj.org/article/7b6218945fb94072a4cc276f64109673