Psychiatric assessment and therapy in an adolescent with ALG6-CDG: a six-month follow-up case report
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00787-024-02564-x.pdf
Reference7 articles.
1. Chang IJ, He M, Lam CT (2018) Congenital disorders of glycosylation. Ann Transl Med 6(24):477. https://doi.org/10.21037/atm.2018.10.45
2. Morava E et al (2016) ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. J Inherit Metab Dis 39(5):713–723. https://doi.org/10.1007/s10545-016-9945-x
3. Dercksen M et al (2013) ALG6-CDG in South Africa: genotype-phenotype description of five novel patients. JIMD Rep 8:17–23. https://doi.org/10.1007/8904_2012_150
4. Min C et al (2015) N-linked glycosylation on the N-terminus of the dopamine D2 and D3 receptors determines receptor association with specific microdomains in the plasma membrane. Biochim Biophys Acta 1853(1):41–51. https://doi.org/10.1016/j.bbamcr.2014.09.024
5. van den Boogert MAW et al (2019) N-glycosylation defects in humans lower low-density lipoprotein cholesterol through increased low-density lipoprotein receptor expression. Circulation 140(4):280–292. https://doi.org/10.1161/CIRCULATIONAHA.118.036484
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