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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: 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
[Phosphoglycerate kinase deficiency].
Sugie H, Sugie Y.
Ryoikibetsu Shokogun Shirizu. 2001;(36):37-40.
PMID:11596414
[Phosphoglycerate kinase deficiency].
Tsujino S.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):70-3.
PMID:9589992
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
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
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
PGK deficiency.
Beutler E.
Br J Haematol. 2007 Jan;136(1):3-11. doi: 10.1111/j.1365-2141.2006.06351.x.
PMID:17222195
PAS domain-containing phosphoglycerate kinase deficiency in Leishmania major results in increased autophagosome formation and cell death.
Adhikari A, Biswas S, Mukherjee A, Das S, Adak S.
Biochem J. 2019 Apr 30;476(8):1303-1321. doi: 10.1042/BCJ20190041.
PMID:30988012
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms.
Aasly J, van Diggelen OP, Boer AM, Brønstad G.
Eur J Neurol. 2000 Jan;7(1):111-3. doi: 10.1046/j.1468-1331.2000.00012.x.
PMID:10809925
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