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Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Eur J Paediatr Neurol. 2014 Jul;18(4):511-5. doi: 10.1016/j.ejpn.2014.01.003. Epub 2014 Feb 28.
Eur J Paediatr Neurol. 2014.
PMID: 24767728
Review.
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH.
Hills LB, et al.
Neurology. 2013 Oct 15;81(16):1378-86. doi: 10.1212/WNL.0b013e3182a841a3. Epub 2013 Sep 27.
Neurology. 2013.
PMID: 24078737
Free PMC article.
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M.
Ebrahimi-Fakhari D, et al.
Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307.
Brain. 2020.
PMID: 32979048
Free PMC article.
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Current enzyme replacement therapy for the treatment of lysosomal storage diseases.
Lim-Melia ER, Kronn DF.
Lim-Melia ER, et al.
Pediatr Ann. 2009 Aug;38(8):448-55. doi: 10.3928/00904481-20090723-09.
Pediatr Ann. 2009.
PMID: 19725195
Review.
No abstract available.
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