| PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only. | PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Benner A, Alhaidan Y, Lines MA, Brusgaard K, De Leon DD, Sparkes R, Frederiksen AL, Christesen HT., Free PMC Article | 01/22/2022 |
| A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature. | A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.
Nguyen NL, Thi Bich Ngoc C, Dung Vu C, Van Tung N, Hoang Nguyen H. | 08/28/2021 |
| Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. | Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Fernandes SA, Cooper GE, Gibson RA, Kishnani PS., Free PMC Article | 07/10/2021 |
| Study identified a novel mutation in PHKA2 (c.2972C > G, p.G991A) in patients with relatively rare phenotype of GSD IXa, including hypoglycaemia and delayed motor development. | A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.
Fu J, Wang T, Xiao X., Free PMC Article | 08/24/2019 |
| Clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having Glycogen storage disease (GSD) type IXa; study detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots. | Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
Zhang J, Yuan Y, Ma M, Liu Y, Zhang W, Yao F, Qiu Z. | 08/12/2017 |
| In this study we summarized the PHKA2 mutation spectrum in Korean glycogen storage disease type IX patients and found that the most common mutation type was gross deletion. | PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
Choi R, Park HD, Kang B, Choi SY, Ki CS, Lee SY, Kim JW, Song J, Choe YH., Free PMC Article | 05/14/2016 |
| The present case also represents the first known reported case of liver PhK deficiency with an PHKA2 mutation and liver cirrhosis. | Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.
Johnson AO, Goldstein JL, Bali D. | 11/24/2012 |
| We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect | Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Achouitar S, Goldstein JL, Mohamed M, Austin S, Boyette K, Blanpain FM, Rehder CW, Kishnani PS, Wortmann SB, den Heijer M, Lefeber DJ, Wevers RA, Bali DS, Morava E. | 03/17/2012 |
| two novel mutations found in two GSD type IX patients with different residual enzyme activities | Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.
Lau CK, Hui J, Fong FN, To KF, Fok TF, Tang NL, Tsui SK. | 10/29/2011 |
| Results show that phosphorylase kinase (PhK) alpha subunit missense mutations or small in-frame deletions/insertions may have a direct impact on the PhK alpha functions. | 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C, Jonic S, Mornon JP, Callebaut I. | 01/21/2010 |
| Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 is associated with X-linked liver glycogenosis | Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).
Fukao T, Zhang G, Aoki Y, Arai T, Teramoto T, Kaneko H, Sugie H, Kondo N. | 01/21/2010 |
| alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity | Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.
Pallen MJ., Free PMC Article | 01/21/2010 |
| Gene analysis was confirmed to represent a useful procedure for diagnosing x-linked liver glycogenosis, for which liver biopsy had previously been required to detect hepatic phosphorylase kinase deficiency | Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.
Ban K, Sugiyama K, Goto K, Mizutani F, Togari H. | 01/21/2010 |