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Adenylosuccinate lyase deficiency.

artículo científico publicado en 2014

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

artículo científico publicado en 2013

CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation.

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

article

Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders

artículo científico publicado en 2013

Mass spectrometric analysis of purine de novo biosynthesis intermediates

scientific article published in PLoS ONE

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

artículo científico publicado en 2010

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

artículo científico

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies

scientific article published on 30 July 2018

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

artículo científico publicado en 2013

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