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Items: 3

1.
Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency
Asami Munekane, Yutaka Ohsawa, Tokiko Fukuda, Hirotake Nishimura, Shin-ichiro Nishimatsu, Hideo Sugie, Yoshihiko Saito, Ichizo Nishino, Yoshihide Sunada
Intern Med. 2022 Apr 15; 61(8): 1241–1245. Published online 2021 Oct 5. doi: 10.2169/internalmedicine.8137-21
PMCID:
PMC9107984
ArticlePDF–1002K
2.
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX
Samuela A. Fernandes, Gabrielle E. Cooper, Rebecca Anne Gibson, Priya S. Kishnani
Mol Genet Metab. Author manuscript; available in PMC 2021 Mar 12.
Published in final edited form as: Mol Genet Metab. 2020 Nov; 131(3): 299–305. Published online 2020 Oct 10. doi: 10.1016/j.ymgme.2020.10.004
PMCID:
PMC7953588
ArticlePDF–427K
3.
cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.
J J Davidson, T Ozçelik, C Hamacher, P J Willems, U Francke, M W Kilimann
Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6): 2096–2100. doi: 10.1073/pnas.89.6.2096
PMCID:
PMC48603
SummaryPage BrowsePDF–1.2M

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