Bryan Sayson
Overview
Explore the profile of Bryan Sayson including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
9
Citations
252
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
van Karnebeek C, Sayson B, Lee J, Tseng L, Blau N, Horvath G, et al.
Front Neurol
. 2018 Dec;
9:1016.
PMID: 30559706
Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of...
2.
van Karnebeek C, Dunbar M, Egri C, Sayson B, Milea J, Stockler-Ipsiroglu S, et al.
Can J Neurol Sci
. 2018 Mar;
45(2):206-213.
PMID: 29506600
Background: Secondary neurotransmitter deficiencies have been reported in several reviews. Our primary aim was to assess the relationship among epilepsy, antiseizure medications, and specific neurotransmitter abnormalities. We also evaluated movement...
3.
Sass J, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, et al.
Mol Genet Metab
. 2016 Aug;
119(1-2):44-9.
PMID: 27477828
Primary 5-oxoprolinuria (pyroglutamic aciduria) is caused by a genetic defect in the γ-glutamyl cycle, affecting either glutathione synthetase or 5-oxoprolinase. While several dozens of patients with glutathione synthetase deficiency have...
4.
Tarailo-Graovac M, Shyr C, Ross C, Horvath G, Salvarinova R, Ye X, et al.
N Engl J Med
. 2016 Jun;
374(23):2246-55.
PMID: 27276562
Background: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of...
5.
Langlois S, Tarailo-Graovac M, Sayson B, Drogemoller B, Swenerton A, Ross C, et al.
Eur J Hum Genet
. 2015 Oct;
24(6):949-53.
PMID: 26486474
PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual...
6.
Sirrs S, van Karnebeek C, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, et al.
Orphanet J Rare Dis
. 2015 Apr;
10:38.
PMID: 25885783
Background: Fatty acid amide hydrolase 2 (FAAH2) is a hydrolase that mediates the degradation of endocannabinoids in man. Alterations in the endocannabinoid system are associated with a wide variety of...
7.
Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, et al.
Orphanet J Rare Dis
. 2015 Apr;
10:23.
PMID: 25885527
Background: Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators...
8.
Sayson B, Moisa Popurs M, Lafek M, Berkow R, Stockler-Ipsiroglu S, van Karnebeek C
Mol Genet Metab
. 2015 Mar;
115(1):1-9.
PMID: 25801009
Background: Intellectual developmental disorders (IDD(1)), characterized by a significant impairment in cognitive function and behavior, affect 2.5% of the population and are associated with considerable morbidity and healthcare costs. Inborn...
9.
Brunham L, Kang M, Van Karnebeek C, Sadananda S, Collins J, Zhang L, et al.
JIMD Rep
. 2014 Oct;
18:51-62.
PMID: 25308558
Tangier disease is a rare, autosomal recessive disorder caused by mutations in the ABCA1 gene and is characterized by near absence of plasma high-density lipoprotein cholesterol, accumulation of cholesterol in...