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

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

European journal of pediatrics - 1 Mar 2011

Dumić Miroslav, Barišić Nina, Rojnić-Putarek Nataša, Kušec Vesna, Stanimirović Andrija, Koehler Katrin, Huebner Angela

Abstract excerpt

The clinical and molecular data on triple A syndrome in two siblings (girl 3.5 years and boy 5.5 years at presentation) with early onset of neurological dysfunction are described. Both patients showed delayed developmental milestones and neurological dysfunctions (motor and sensory demyelinating neuropathy, marked hyperreflexia, calves hypothrophy, pes cavus, gait disturbance) in early childhood, when erroneously...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Insufficiency
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Esophageal Achalasia

Share to Mutation

Share to Mutation, Missense

Share to Nerve Tissue Proteins

Share to Nuclear Pore Complex Proteins

Share to Polyneuropathies

Source

Identifiers

PMID: 20931227
DOI: 10.1007/s00431-010-1314-4

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.PMID 20931227Read ↗

Triple A syndrome: 32 years experience of a single centre (1977-2008).Semantic proximity Read ↗

Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.Semantic proximity Read ↗

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.Semantic proximity Read ↗

Unusual clinical presentation and new mutation in a case of triple A syndrome.Semantic proximity Read ↗

Clinical and genetic characterisation of a series of patients with triple A syndrome.Semantic proximity Read ↗

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.Semantic proximity Read ↗

Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.Semantic proximity Read ↗

New insights into the molecular basis of the triple A syndrome.Semantic proximity Read ↗

Identification of two novel and four known mutation in the AAAS gene in unrelated Turkish FamiliesSemantic proximity Read ↗

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.Semantic proximity Read ↗

Clinical and genetic characterization of families with triple A (Allgrove) syndrome.Semantic proximity Read ↗

Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity.Semantic proximity Read ↗

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