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

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.

Investigacion clinica - 1 Dec 2014

Delgado Luengo Wilmer N, Miranda Contreras Luis E, Chávez Carlos J, Solis-Añez Ernesto, Cammarata-Scalisi Francisco

Abstract excerpt

Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie...

Read the complete abstract on PubMed

Topics

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

Share to Glycosaminoglycans
Share to Iduronidase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Introns

Share to Magnetic Resonance Imaging

Share to Mucopolysaccharidosis I

Share to Point Mutation

Share to Sequence Deletion

Share to Symptom Assessment

Source

Identifiers

PMID: 25558755

Genes

IDUA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.PMID 25558755Read ↗

Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.Semantic proximity Read ↗

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.Semantic proximity Read ↗

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.Semantic proximity Read ↗

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.Semantic proximity Read ↗

Mucopolysaccharidosis Type ISemantic proximity Read ↗

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.Semantic proximity Read ↗

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.Semantic proximity Read ↗

Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.Semantic proximity Read ↗

Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.Semantic proximity Read ↗

Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.Semantic proximity Read ↗

[Mucopolysaccharidosis I, Hurler syndrome: a case report].Semantic proximity Read ↗

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I RegistrySemantic proximity Read ↗

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