PMC Articles for MedGen (Select 442778) - PMC

Select item 90971061.

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

Yongxian Shao, Taolin Li, Minyan Jiang, Jianan Xu, Yonglan Huang, Xiuzhen Li, Ruidan Zheng, Li Liu

BMC Pediatr. 2022; 22: 267. Published online 2022 May 12. doi: 10.1186/s12887-021-03055-7

PMCID:: PMC9097106

Select item 86516892.

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

Jun Kido, Hiroshi Mitsubuchi, Takehisa Watanabe, Keishin Sugawara, Hideo Sasai, Toshiyuki Fukao, Kimitoshi Nakamura

Hum Genome Var. 2021; 8: 45. Published online 2021 Dec 8. doi: 10.1038/s41439-021-00172-8

PMCID:: PMC8651689

Article PDF–1006K

Select item 97920753.

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2^−/− mouse model

Rebecca A. Gibson, Jeong-A Lim, Su Jin Choi, Leticia Flores, Lani Clinton, Deeksha Bali, Sarah Young, Aravind Asokan, Baodong Sun, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2022 Dec 26.

Published in final edited form as: Mol Genet Metab. 2021 Jul; 133(3): 269–276. Published online 2021 May 25. doi: 10.1016/j.ymgme.2021.05.008

PMCID:: PMC9792075

Article PDF–1.7M

Select item 92951014.

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort

Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici, Arianna Maiorana

Orphanet J Rare Dis. 2022; 17: 285. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02431-5

PMCID:: PMC9295101

Article PDF–1.3M

Select item 39529475.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

Deeksha S. Bali, Jennifer L Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard Lutz, Avihu Boneh, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Mol Genet Metab. 2014 Mar; 111(3): 309–313. Published online 2013 Dec 19. doi: 10.1016/j.ymgme.2013.12.008

PMCID:: PMC3952947

Article PDF–97K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity