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Article

Diagnosis of patients with mucopolysaccharidosis type II via RNA sequencing.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2022

Tang Jie, Chang Guoying, Wei Meili, Li Xin, Chen Hongzhu, Qin Yanrong, Wang Jian, Wang Xiuming, Chen Ruimin, Li Niu

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disorder caused by various variants in the IDS gene. It is known that genomic recombinants between IDS and its homologous pseudogene IDSP1 account for a small number of patients, for whom genetic diagnosis usually relies on restriction enzyme digestion at specific loci. Nevertheless, such approach cannot reveal the...

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PMID: 36257379
DOI: 10.1016/j.cca.2022.10.007

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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.

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