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Article

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

Annals of laboratory medicine - 1 May 2017

Choi Rihwa, Park Hyung Doo, Ko Jung Min, Lee Jeongho, Lee Dong Hwan, Hong Suk Jin, Ki Chang Seok, Lee Soo Youn, Kim Jong Won, Song Junghan, Choe Yon Ho

Abstract excerpt

BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS: Nine Korean patients from eight unrelated families with GSD Ib were included. SLC37A4 mutations were detected in all patients with direct sequencing using a PCR method and/or...

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Identifiers

PMID: 28224773
DOI: 10.3343/alm.2017.37.3.261
PMCID: PMC5339099

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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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