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Article

Argininosuccinic aciduria: from a monogenic to a complex disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2013

Erez Ayelet

Abstract excerpt

In the early 1930s, phenylketonuria was among the first metabolic diseases to be defined. In the following years, multiple attempts to correlate genotype and phenotype in several inherited metabolic diseases, including phenylketonuria, were encountered with difficulties. It is becoming evident that the phenotype of metabolic disorders is often more multifaceted than expected from the disruption of a specific...

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PMID: 23306800
DOI: 10.1038/gim.2012.166

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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