X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference24 articles.
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2. Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes;Alvarado;J Pediatr,1988
3. Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes;Bakker;J Inherit Metab Dis,1991
4. 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase;Carrière;Biochim Biophys Acta,2008
5. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients;Willems;Eur J Pediatr,1990
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1. Male inheritance of X-linked liver glycogenosis from an undiagnosed maternal grandfather in a Chinese pedigree: a report of two cases;Journal of Bio-X Research;2021-02-17
2. Mutation in PHKA2 leading to childhood glycogen storage disease type IXa;Medicine;2019-11
3. A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review;BMC Medical Genetics;2019-03-29
4. Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa;Gene;2017-09
5. X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation;Clinica Chimica Acta;2013-11
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