Alice Zalan
Overview
Explore the profile of Alice Zalan including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
21
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0
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Recent Articles
1.
Kirchner A, Sanchez I, Zalan A, Bhat G, Bain M
Pediatr Dermatol
. 2022 Feb;
39(3):483-485.
PMID: 35191551
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genetic disorder that typically presents in the first year of life with severe diarrhea, autoimmune endocrine disorder, and inflammatory dermatitis,...
2.
Ahmad S, Manon L, Bhat G, Machado J, Zalan A, Mata-Machado N, et al.
Hum Genome Var
. 2020 Dec;
7(1):39.
PMID: 33298910
Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant...
3.
Zalan A, Maga T, Perpich M, Pillay Smiley N, Weiss McQuaid S
J Genet Couns
. 2020 Oct;
30(2):533-543.
PMID: 33073438
Pediatric brain tumor survivorship populations have not been typically offered genetic services as part of routine care. Genetic services can be defined as family history collection, genetic risk assessment for...
4.
Ng B, A Eklund E, Shiryaev S, Dong Y, Abbott M, Asteggiano C, et al.
J Inherit Metab Dis
. 2020 Jul;
43(6):1333-1348.
PMID: 32681751
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants...