Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib-Reference-Cited by-同舟云学术

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

Published:2017-05-01 Issue:3 Volume:37 Page:261-266
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Choi Rihwa¹,Park Hyung-Doo¹,Ko Jung Min²,Lee Jeongho³,Lee Dong Hwan³,Hong Suk Jin⁴,Ki Chang-Seok¹,Lee Soo-Youn¹,Kim Jong-Won¹,Song Junghan⁵,Choe Yon Ho⁶

Affiliation:

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

2. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea

3. Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea

4. Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea

5. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea

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

Funder

Ministry of Health & Welfare

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2017.37.3.261

Reference26 articles.

1. Type I Glycogen Storage Diseases: Disorders of the Glucose-6- Phosphatase Complex

2. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes

3. Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

4. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

5. Inborn Metabolic Diseases

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