• Aminoacylase 1 deficiency associated with autistic behavior
• Aminoacylase 1 deficiency: case report on three affected siblings
• Aminoacylase I deficiency due to ACY1 mRNA exon skipping
• Detection of N-acetyl methionine in human and murine brain and neuronal and glial derived cell lines
• Differential protein expression in metallothionein protection from depleted uranium-induced nephrotoxicity
• Disturbance of mitochondrial functions caused by N-acetylglutamate and N-acetylmethionine in brain of adolescent rats: Potential relevance in aminoacylase 1 deficiency
• Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia
• Four years follow up of ACY1 deficient patient and pedigree study
• Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment
• Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum
• Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes
• Menkes disease complicated by concurrent ACY1 deficiency: A case report
• Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
• N-acetylamino acid utilization by kidney aminoacylase-1
• N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency
• Neurological findings in aminoacylase 1 deficiency
• NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
• Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature
• Proteomic profiling in Lipocalin 2 deficient mice under normal and inflammatory conditions
• Purification and characterisation of a lactococcal aminoacylase
• Serum concentrations of aminoacylase 1 in schizophrenia as a potential biomarker: a case-sibling-control study
• The molecular basis of aminoacylase 1 deficiency