A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b-Reference-Cited by-同舟云学术

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A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b

Published:2005 Issue:3 Volume:20 Page:499
ISSN:1011-8934
Container-title:Journal of Korean Medical Science
language:en
Short-container-title:J Korean Med Sci

Author:

Han Sung-Hee¹,Ki Chang-Seok¹,Lee Ji-Eun²,Hong Young-Jin²,Son Byong-Kwan²,Lee Kyung-Hee³,Choe Yon-Ho⁴,Lee Soo-Youn¹,Kim Jong-Won¹

Affiliation:

1. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

2. Department of Pediatrics, College of Medicine, Inha University, Inchon, Korea.

3. Department of Radiology, College of Medicine, Inha University, Inchon, Korea.

4. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Publisher

Korean Academy of Medical Sciences

Subject

General Medicine

Link

https://synapse.koreamed.org/pdf/10.3346/jkms.2005.20.3.499

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1. Improvement of neutropenia in 2 adolescent cases treated with empagliflozin for glycogen storage disease type Ib;Pediatric Emergency Medicine Journal;2024-07-30

2. Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review;Journal of International Medical Research;2023-12

3. Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b;Diabetology & Metabolic Syndrome;2023-04-28

4. Identification of mutations that causes glucose-6-phosphate transporter defect in Tunisian patients with glycogenosis type 1b;2023-01-03

5. Disorders of Carbohydrate Metabolism;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

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