Work

A case of mucolipidosis Ⅱalpha/beta caused by GNPTAB gene mutation and its enzyme analysis

Year: 2026

Type: article

Study design: Case Report

Source: DOAJ (DOAJ: Directory of Open Access Journals)

DOI: 10.13429/j.cnki.cjcr.2026.10.025

Authors: LIANG Rujia, LIU Fang, YIN Xiaowei, DU Zhifang, LIU Jun

Language: Chinese

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7224128672

FWCI:

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