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Article

Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.

BMC pediatrics - 23 Dec 2024

Feng Yuyu, Huang Yonglan, Zhao Xiaoyuan, Sheng Huiying, Su Xueying, Yin Xi, Li Liu, Zhang Wen

Abstract excerpt

BACKGROUND: Mucolipidosis (ML) II and III alpha/beta are lysosomal disorders caused by mutations in the GNPTAB gene which encodes the alpha and beta subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase. METHOD: To explore the clinical and molecular characteristics of the 20 ML II and III alpha/beta patients, clinical data was collected and GNPTAB gene was analyzed by nest PCR and...

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Identifiers

PMID: 39710647
DOI: 10.1186/s12887-024-05223-x
PMCID: PMC11665131

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