PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-07225-6.pdf
Reference19 articles.
1. Kinoshita T, Fujita M, Maeda Y (2008) Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. J Biochem 144(3):287–294. https://doi.org/10.1093/jb/mvn090
2. Kinoshita T (2014) Biosynthesis and deficiencies of glycosylphosphatidylinositol. Proc Jpn Acad Ser B Phys Biol Sci 90(4):130–143. https://doi.org/10.2183/pjab.90.130
3. Makrythanasis P, Kato M, Zaki MS et al (2016) Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia. Am J Hum Genet 98(4):615–626. https://doi.org/10.1016/j.ajhg.2016.02.007
4. Bellai-Dussault K, Nguyen TTM, Baratang NV, Jimenez-Cruz DA, Campeau PM (2019) Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. Clin Genet 95(1):112–121. https://doi.org/10.1111/cge.13425
5. Jaeken J, Péanne R (2017) What is new in CDG? J Inherit Metab Dis 40(4):569–586. https://doi.org/10.1007/s10545-017-0050-6
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1. Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders;Genes;2024-05-14
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