A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene-Reference-Cited by-同舟云学术

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

Author:

Choi So Yoon¹²,Kang Ben¹³,Choe Jae Young³,Lee Yoon¹⁴,Jang Hyo Jeong⁵,Park Hyung-Doo⁶,Lee Suk-Koo⁷,Choe Yon Ho¹

Affiliation:

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

2. Department of Pediatrics, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

3. Department of Pediatrics, School of Medicine, Kyungpook National University, Daegu, Korea.

4. Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.

5. Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea.

6. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

7. Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Publisher

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition

Subject

Gastroenterology,Hepatology,Pediatrics, Perinatology and Child Health

Link

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4. Glycogen storage diseases: An update;World Journal of Gastroenterology;2023-07-07