1. AlSubhi, Sarah, AlHashem, Amal, AlAzami, Anas, Alkuraya, Fowzan S, Tabarki, Brahim. 2015. Further Delineation of the ALG9-CDG Phenotype. In JIMD reports, 27, 107-12. doi:10.1007/8904_2015_504. https://pubmed.ncbi.nlm.nih.gov/26453364/
2. Chang, Alexander R, Moore, Bryn S, Luo, Jonathan Z, Singh, Gurmukteshwar, Mirshahi, Tooraj. . Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease. In JAMA, 328, 2412-2421. doi:10.1001/jama.2022.22847. https://pubmed.ncbi.nlm.nih.gov/36573973/
3. Himmelreich, Nastassja, Dimitrov, Bianca, Zielonka, Matthias, Schlüter, Gregor, Thiel, Christian. 2022. Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature. In Molecular genetics and metabolism, 136, 274-281. doi:10.1016/j.ymgme.2022.06.005. https://pubmed.ncbi.nlm.nih.gov/35839600/
4. Besse, Whitney, Chang, Alex R, Luo, Jonathan Z, Somlo, Stefan, Mirshahi, Tooraj. 2019. ALG9 Mutation Carriers Develop Kidney and Liver Cysts. In Journal of the American Society of Nephrology : JASN, 30, 2091-2102. doi:10.1681/ASN.2019030298. https://pubmed.ncbi.nlm.nih.gov/31395617/
5. Boerrigter, Melissa M, Duijzer, Renée, Te Morsche, René H M, Drenth, Joost P H. 2023. Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease. In Genes, 14, . doi:10.3390/genes14091755. https://pubmed.ncbi.nlm.nih.gov/37761895/
6. Frank, Christian G, Grubenmann, Claudia E, Eyaid, Wafaa, Aebi, Markus, Hennet, Thierry. 2004. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. In American journal of human genetics, 75, 146-50. doi:. https://pubmed.ncbi.nlm.nih.gov/15148656/
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