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phosphoglycerate kinase deficiency相关文献:
Phosphoglycerate kinase deficiency.
Sugie H, Sugie Y, Tsurui S, Ito M.
Neurology. 1994 Jul;44(7):1364-5. doi: 10.1212/wnl.44.7.1364-b.
PMID:8035953
[Phosphoglycerate kinase deficiency].
Tsujino S.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):70-3.
PMID:9589992
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Echaniz-Laguna A, Nadjar Y, Béhin A, Biancalana V, Piraud M, Malfatti E, Laforêt P.
J Inherit Metab Dis. 2019 Sep;42(5):803-808. doi: 10.1002/jimd.12087. Epub 2019 Apr 8.
PMID:30887539
First Report of Phosphoglycerate Kinase Deficiency in a Dine Child With Review of Current Literature.
Hierholzer A, Mador J, Guntu R, Schafernak K, Grebe TA.
Am J Med Genet A. 2025 Jul;197(7):e64034. doi: 10.1002/ajmg.a.64034. Epub 2025 Mar 3.
PMID:40026287
[Phosphoglycerate kinase deficiency].
Sugie H, Sugie Y.
Ryoikibetsu Shokogun Shirizu. 2001;(36):37-40.
PMID:11596414
A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
Baba K, Fukuda T, Furuta M, Tada S, Imai A, Asano Y, Sugie H, P Takahashi M, Mochizuki H.
Intern Med. 2022 Dec 1;61(23):3589-3594. doi: 10.2169/internalmedicine.9221-21. Epub 2022 May 7.
PMID:35527021
Anaesthesia Challenges for a Patient with Phosphoglycerate Kinase Deficiency Undergoing Open Gastrostomy Procedure: A Case Report.
Hassan M, Greaney D.
Rom J Anaesth Intensive Care. 2022 Dec 29;28(2):86-88. doi: 10.2478/rjaic-2021-0014. eCollection 2021 Dec.
PMID:36844121
Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.
Fujii H, Miwa S.
Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):141-8. doi: 10.1053/beha.1999.0062.
PMID:10916683
An atypical case of phosphoglycerate kinase deficiency with a novel PGK1 variant.
Zhou X, Liu Q, Huang M.
Seizure. 2024 Apr;117:161-163. doi: 10.1016/j.seizure.2024.02.010. Epub 2024 Feb 20.
PMID:38432079
PGK deficiency.
Beutler E.
Br J Haematol. 2007 Jan;136(1):3-11. doi: 10.1111/j.1365-2141.2006.06351.x.
PMID:17222195
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