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Article

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Molecular genetics and metabolism - 1 Aug 2013

Oussoren Esmee, Keulemans Joke, van Diggelen Otto P, Oemardien Linda F, Timmermans Remco G, van der Ploeg Ans T, Ruijter George J G

Abstract excerpt

Three major clinical subgroups are usually distinguished in Mucopolysaccharidosis type I: Hurler (MPS IH, severe presentation), Hurler-Scheie (MPS IH/S, intermediate) and Scheie (MPS IS, mild). To facilitate treatment with hematopoietic stem-cell transplantation, early diagnosis is important for MPS IH patients. Although screening for MPS I in newborns would allow detection at an early age, it may be difficult to...

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Identifiers

PMID: 23786846
DOI: 10.1016/j.ymgme.2013.05.016

Genes

IDUA

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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.

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