A novel 2.4‐kb <scp><i>PHKA2</i></scp> deletion in a boy with glycogen storage disease type <scp>IXa</scp>-Reference-Cited by-同舟云学术

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A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa

Published:2024-02-15 Issue:2 Volume:64 Page:63-65
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Sato Takeshi¹^ORCID,Ichihashi Yosuke¹,Sugie Hideo²,Ishii Tomohiro¹,Hasegawa Tomonobu¹

Affiliation:

1. Department of Pediatrics Keio University School of Medicine Tokyo Japan

2. Faculty of Health and Medical Sciences Tokoha University Shizuoka Japan

Funder

JCR Pharmaceuticals

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12555

Reference8 articles.

1. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

2. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children

3. Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate “Diseased” Hepatocytes for Accurate Diagnosis

4. Identification of Alu-mediated, large deletion-spanning introns 19–26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency)

5. Novel gross deletion at the GHRHR gene locus possibly mediated by Alu specific microhomology identified in a Sri Lankan patient with isolated growth hormone deficiency

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