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Article

Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2024

Piombarolo Aurora, Ialongo Cristiano, Bizzarri Mariano, Angeloni Antonio

Abstract excerpt

Inborn errors of metabolism (IEM) are a group of about 500 rare genetic diseases with large diversity and complexity due to number of metabolic pathways involved in. Establishing a correct diagnosis and identifying the specific clinical phenotype is consequently a difficult task. However, an inclusive diagnosis able in capturing the different clinical phenotypes is mandatory for successful treatment. However, in...

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PMID: 38060187
DOI: 10.1007/978-1-0716-3577-3_12

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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