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

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.

Journal of inherited metabolic disease - 1 Dec 2010

Chen Bee Chin, McGown Ivan N, Thong Meow Keong, Pitt James, Yunus Zabedah M, Khoo Teck Beng, Ngu Lock Hock, Duley John A

Abstract excerpt

Most cases of adenylosuccinate lyase (ADSL OMIM 103050) deficiency reported to date are confined to the various European ethnic groups. We report on the first Malaysian case of ADSL deficiency, which appears also to be the first reported Asian case. The case was diagnosed among a cohort of 450 patients with clinical features of psychomotor retardation, global developmental delay, seizures, microcephaly and/or...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine
Share to Adenosine Monophosphate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aminoimidazole Carboxamide

Share to Child Development

Share to Myoclonus

Share to Psychomotor Disorders

Share to Purine-Pyrimidine Metabolism, Inborn Errors

Share to Spectrometry, Mass, Electrospray Ionization

Source

Identifiers

PMID: 20177786
DOI: 10.1007/s10545-010-9056-z

Genes

ADSL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.PMID 20177786Read ↗

Adenylosuccinate lyase deficiency.Semantic proximity Read ↗

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

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

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumSemantic proximity Read ↗

Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.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 ↗

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.Semantic proximity Read ↗

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

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

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

Adenylosuccinate lyase deficiency.Semantic proximity Read ↗

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.Semantic proximity Read ↗

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