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Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Molecular genetics and metabolism - 1 Aug 2008

Jurecka Agnieszka, Zikanova Marie, Tylki-Szymanska Anna, Krijt Jakub, Bogdanska Anna, Gradowska Wanda, Mullerova Karolina, Sykut-Cegielska Jolanta, Kmoch Stanislav, Pronicka Ewa

Abstract excerpt

Adenylosuccinate lyase (ADSL) catalyzes two steps in purine nucleotide metabolism-the 8th step in the de novo pathway: conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR), and conversion of adenylosuccinate (S-AMP) to adenylate (AMP) in the purine nucleotide cycle. To date, over 50 patients have been reported suffering from ADSL deficiency. We report...

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Source

Identifiers

PMID: 18524658
DOI: 10.1016/j.ymgme.2008.04.013

Genes

ADSL

Variants

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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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