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

Congenit Anom (Kyoto). 2024 Mar;64(2):63-65. doi: 10.1111/cga.12555. Epub 2024 Feb 15.

Authors

Takeshi Sato¹, Yosuke Ichihashi¹, Hideo Sugie², Tomohiro Ishii¹, Tomonobu Hasegawa¹

Affiliations

¹ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
² Faculty of Health and Medical Sciences, Tokoha University, Shizuoka, Japan.

PMID: 38361096
DOI: 10.1111/cga.12555

No abstract available

Publication types

Case Reports

MeSH terms

Glycogen Storage Disease* / diagnosis
Glycogen Storage Disease* / genetics
Humans
Liver
Male
Mutation
Phosphorylase Kinase / genetics

Substances

PHKA2 protein, human
Phosphorylase Kinase

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