Aspartylglucosaminuria.
Goodspeed K, Chen X, Tchan M.
2024 Jan 18. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Aspartylglucosaminuria: Clinical Presentation and Potential Therapies.
Goodspeed K, Feng C, Laine M, Lund TC.
J Child Neurol. 2021 Apr;36(5):403-414. doi: 10.1177/0883073820980904. Epub 2021 Jan 13.
Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria.
Tokola A, Laine M, Tikkanen R, Autti T.
AJNR Am J Neuroradiol. 2019 Nov;40(11):1850-1854. doi: 10.3174/ajnr.A6288. Epub 2019 Oct 24.
[Aspartylglucosaminuria].
Yamaguchi S.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):466-8.
Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study.
Roine U, Tokola AM, Autti T, Roine T.
AJNR Am J Neuroradiol. 2023 Jan;44(1):40-46. doi: 10.3174/ajnr.A7745. Epub 2022 Dec 22.
Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase.
Halila R, Ikonen E, Tollersrud O, Syvänen AC, Enomaa N, Peltonen L.
Biochem Med Metab Biol. 1993 Aug;50(1):1-8. doi: 10.1006/bmmb.1993.1041.
Progressive nature of aspartylglucosaminuria.
Arvio P, Arvio M.
Acta Paediatr. 2002;91(3):255-7. doi: 10.1080/08035250252833842.
A cross-sectional natural history study of aspartylglucosaminuria.
Goodspeed K, Horton D, Lowden A, Sguigna PV, Booth T, Wang ZJ, Edgar VB.
JIMD Rep. 2022 Jul 14;63(5):425-433. doi: 10.1002/jmd2.12294. eCollection 2022 Sep.
Detection of Aspartylglucosaminuria Patients from Magnetic Resonance Images by a Machine-Learning-Based Approach.
Ruohola A, Salli E, Roine T, Tokola A, Laine M, Tikkanen R, Savolainen S, Autti T.
Brain Sci. 2022 Nov 10;12(11):1522. doi: 10.3390/brainsci12111522.
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
Ikonen E, Peltonen L.
Hum Mutat. 1992;1(5):361-5. doi: 10.1002/humu.1380010503.
