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Article

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Orphanet journal of rare diseases - 17 Jan 2017

Yang Mina, Cho Sung Yun, Park Hyung-Doo, Choi Rihwa, Kim Young-Eun, Kim Jinsup, Lee Soo-Youn, Ki Chang-Seok, Kim Jong-Won, Sohn Young Bae, Song Junghan, Jin Dong-Kyu

Abstract excerpt

BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in...

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Identifiers

PMID: 28095893
DOI: 10.1186/s13023-016-0556-2
PMCID: PMC5240260

Genes

GNPTAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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