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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5.
J Inherit Metab Dis. 2020.
PMID: 32681751
Free PMC article.
Malignant brain tumors in patients with glutaric aciduria type I.
Serrano Russi A, Donoghue S, Boneh A, Manara R, Burlina AB, Burlina AP.
Serrano Russi A, et al.
Mol Genet Metab. 2018 Nov;125(3):276-280. doi: 10.1016/j.ymgme.2018.08.006. Epub 2018 Aug 27.
Mol Genet Metab. 2018.
PMID: 30217722
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Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
Hu J, Madan-Khetarpal S, Serrano Russi AH, Kochmar S, Deward SJ, Sathanoori M, Surti U.
Hu J, et al. Among authors: serrano russi ah.
Genet Res Int. 2011;2011:185271. doi: 10.4061/2011/185271. Epub 2011 Jul 17.
Genet Res Int. 2011.
PMID: 22567345
Free PMC article.
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