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

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.

European journal of pediatrics - 1 Jul 2007

Tokic Visnja, Barisic Ingeborg, Huzjak Nevenka, Petkovic Giorgie, Fumic Ksenija, Paschke Eduard

Abstract excerpt

UNLABELLED: Although offered, two of our Hurler patients (OMIM 607014) had not undergone bone marrow transplantation at an early stage of their disease. Rapid disease progression had resulted in a range of signs and symptoms representative of advanced neurodegeneration and debilitating somatic Hurler disease. As general palliative care had only little impact on the burden of disease, laronidase (Aldurazyme)...

Read the complete abstract on PubMed

Topics

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

Share to Iduronidase
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocytes

Share to Mucopolysaccharidosis I

Share to Phenotype

Share to Quality of Life

Share to Severity of Illness Index

Share to Treatment Outcome

Source

Identifiers

PMID: 17043838
DOI: 10.1007/s00431-006-0316-8

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

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.PMID 17043838Read ↗

Enzyme replacement therapy in mucopolysaccharidosis type I.Semantic proximity Read ↗

Management of MPS-I using ERT: The Egyptian experienceSemantic proximity Read ↗

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.Semantic proximity Read ↗

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.Semantic proximity Read ↗

Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and BeyondSemantic proximity Read ↗

Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-year Clinical Outcome Study of the First Taiwanese CaseSemantic proximity Read ↗

Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation.Semantic proximity Read ↗

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centresSemantic proximity Read ↗

Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry DiseaseSemantic proximity Read ↗

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

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.Semantic proximity Read ↗

[Enzyme replacement therapy for Gaucher disease introduced in late adulthood].Semantic proximity Read ↗

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