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Article

Aminoacylase 1 deficiency associated with autistic behavior.

Journal of inherited metabolic disease - 1 Dec 2010

Tylki-Szymanska Anna, Gradowska Wanda, Sommer Anke, Heer Angelina, Walter Melanie, Reinhard Christina, Omran Heymut, Sass Jörn Oliver, Jurecka Agnieszka

Abstract excerpt

Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the patients reported so far have presented with rather heterogeneous neurologic symptoms. At this moment, it is not clear whether ACY1 deficiency represents a true metabolic disease with a causal relatio...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20480396
DOI: 10.1007/s10545-010-9089-3

Genes

ACY1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20480396-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Aminoacylase 1 deficiency associated with autistic behavior.PMID 20480396Read ↗

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