Publications

Alessandri MG et al. Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum. JIMD Rep. 2014:16:81-7. PMID: 24997716.

Alessandri MG et al. Four years follow up of ACY1 deficient patient and pedigree study. Brain Dev. 2018;40(7):570-75. PMID: 29653693.

Engelke UFH et al. NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed. 2008;21(2):138-47. PMID: 17516490.

Ferri L et al. Aminoacylase I deficiency due to ACY1 mRNA exon skipping. Clin Genet. 2014;86(4);367-72. PMID: 24117009.

Mauri A et al. Menkes disease complicated by concurrent ACY1 deficiency: A case report. Front Genet. 2023; 14:1077625. PMID: 36936426.

Mohammadi MF et al. Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature. Ir J Med Sci. 2024;193(1):449-56. PMID: 37523070.

Sass JO et al. Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism. Am J Hum Genet. 2006;78(3);401-9. PMID: 16465618.

Sass JO et al. Neurological findings in aminoacylase 1 deficiency. Neurology. 2007;68(24);2151-3. PMID: 17562838.

Sass JO et al. 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. 2016;31(3):587-92. PMID: 26686503.

Smolka V et al. Aminoacylase 1 deficiency: case report on three affected siblings. AME Case Rep. 2023;8:18. PMID: 38234346.

Sommer A et al. The molecular basis of aminoacylase 1 deficiency. Biochim Biophys Acta. 2011;1812(6):685-90. PMID: 21414403.

Tylki-Szymanska A et al. Aminoacylase 1 deficiency associated with autistic behavior. J Inherit Metab Dis. 2010:33 Suppl 3:S211-4. PMID: 20480396.

Van Coster RN et al. Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun. 2005;338(3):1322-6. PMID: 16274666.

Waters PJ et al. Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD Rep. 2018:39:89-96. PMID: 28766179.