Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature-Reference-Cited by-同舟云学术

Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature

Published:2023-07-31 Issue:1 Volume:193 Page:449-456
ISSN:0021-1265
Container-title:Irish Journal of Medical Science (1971 -)
language:en
Short-container-title:Ir J Med Sci

Author:

Mohammadi Mohammad Farid^ORCID,Dehghani Ali^ORCID,Zarabadi Kiana^ORCID,Kahani Seyyed Mohammad^ORCID,Sayyad Setareh^ORCID,Ashrafi Mahmoud Reza,Heidari Morteza^ORCID,Mohammadi Pouria^ORCID,Garshasbi Masoud^ORCID,Tavasoli Ali Reza^ORCID

Funder

National Institute for Medical Research Development

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11845-023-03452-0.pdf

Reference25 articles.

1. Ferri L, Funghini S, Fioravanti A, Biondi E, la Marca G, Guerrini R, Donati MA, Morrone A (2014) Aminoacylase I deficiency due to ACY1 mRNA exon skipping. Clin Genet 86(4):367–372

2. Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Krantz SS, Moebus R, Weiler P, Kispert A, Furga AS, Wevers RA, Omran H (2006) Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet 78(3):401–409.

3. Sass JO, Vaithilingam J, Gemperle-Britschgi C, Delnooz CC, Kluijtmans LA, van de Warrenburg BP, Wevers RA (2016) Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia. Metab Brain Dis 31(3):587-592.

4. Alessandrì MG, Casarano M, Pezzini I et al (2014) Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum. JIMD Rep Vol 16. Springer, pp 81–7

5. Lindner HA, Lunin VV, Alary A, Hecker R, Cygler M, Ménard R (2003) Essential roles of zinc ligation and enzyme dimerization for catalysis in the aminoacylase-1/M20 family. J Biol 278(45):44496–44504.

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