Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

American journal of medical genetics. Part A - 15 Jul 2003

Edery Patrick, Chabrier Stéphane, Ceballos-Picot Irène, Marie Sandrine, Vincent Marie-Françoise, Tardieu Marc

Abstract excerpt

We report on the striking variable expression of adenylosuccinate lyase (ADSL) deficiency in three patients belonging to a family which originates from Portugal. ADSL deficiency is a rare autosomal recessive disorder of the de novo purine synthesis which results in accumulation of succinylpurines...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aminoimidazole Carboxamide
Share to Cerebellum
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corpus Callosum

Share to Genes, Recessive

Share to Homozygote

Share to Radiography

Share to Telencephalon

Source

Identifiers

PMID: 12833398
DOI: 10.1002/ajmg.a.20176

Genes

ADSL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12833398-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.PMID 12833398Read ↗

Topical Review : Neurologic Aspects of Adenylosuccinate Lyase DeficiencySemantic proximity Read ↗

Adenylosuccinate lyase deficiency.Semantic proximity Read ↗

Adenylosuccinate lyase deficiency--first British case.Semantic proximity Read ↗

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.Semantic proximity Read ↗

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.Semantic proximity Read ↗

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.Semantic proximity Read ↗

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.Semantic proximity Read ↗

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.Semantic proximity Read ↗

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.Semantic proximity Read ↗

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.Semantic proximity Read ↗

Autism and adenylosuccinase deficiency.Semantic proximity Read ↗

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.