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Year Number of Results
1968 2
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1981 2
1982 1
1983 2
1984 1
1985 1
1986 2
1987 2
1988 1
1989 1
1990 1
1993 1
1994 3
1995 3
1996 1
1998 1
2000 4
2003 1
2004 1
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64 results

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Page 1
PGK deficiency.
Beutler E. Beutler E. Br J Haematol. 2007 Jan;136(1):3-11. doi: 10.1111/j.1365-2141.2006.06351.x. Br J Haematol. 2007. PMID: 17222195 Free article. Review.
Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non-spherocytic haemolytic anaemia (HNSHA). ...
Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non-spherocytic haemolytic ana …
Phosphoglycerate kinase deficiency.
Sugie H, Sugie Y, Tsurui S, Ito M. Sugie H, et al. Neurology. 1994 Jul;44(7):1364-5. doi: 10.1212/wnl.44.7.1364-b. Neurology. 1994. PMID: 8035953 No abstract available.
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Echaniz-Laguna A, Nadjar Y, Béhin A, Biancalana V, Piraud M, Malfatti E, Laforêt P. Echaniz-Laguna A, et al. J Inherit Metab Dis. 2019 Sep;42(5):803-808. doi: 10.1002/jimd.12087. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30887539
Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. ...Case 3 was a 48-year-old patient with NSHA, retinitis pigmentosa, mental retardation, seizures, stroke, parkinsonism, and a c.491A > T PGK1 hem …
Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. ...Case 3 …
Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.
Fujii H, Miwa S. Fujii H, et al. Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):141-8. doi: 10.1053/beha.1999.0062. Baillieres Best Pract Res Clin Haematol. 2000. PMID: 10916683 Review.
Phosphoglycerate kinase (PGK) deficiency is associated with hereditary haemolytic anaemia and often with central nervous system dysfunction and/or myopathy. ...The correlation between the phenotypic and structural differences in PGK deficiency remains …
Phosphoglycerate kinase (PGK) deficiency is associated with hereditary haemolytic anaemia and often with central nervous syste …
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG. Vissing J, et al. Neurology. 2018 Sep 11;91(11):e1077-e1082. doi: 10.1212/WNL.0000000000006165. Epub 2018 Aug 15. Neurology. 2018. PMID: 30111548
CONCLUSIONS: This case series study of PGK1 deficiency suggests that the level of impaired glycolysis in PGK deficiency is a major determinant of phenotype. Lower glycolytic capacity in PGK1 deficiency seems to result in multisystem involvement and increased suscept …
CONCLUSIONS: This case series study of PGK1 deficiency suggests that the level of impaired glycolysis in PGK deficiency is a m …
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. Baba K, et al. Intern Med. 2022 Dec 1;61(23):3589-3594. doi: 10.2169/internalmedicine.9221-21. Epub 2022 May 7. Intern Med. 2022. PMID: 35527021 Free PMC article. Review.
Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. ...A literature review revealed only one case with a mixed hemolytic and myopathic phenotype like ours. This mild ph …
Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, …
Progress and problems in muscle glycogenoses.
DiMauro S, Spiegel R. DiMauro S, et al. Acta Myol. 2011 Oct;30(2):96-102. Acta Myol. 2011. PMID: 22106711 Free PMC article. Review.
Similarly, the multisystemic infantile presentation of phosphofructokinase deficiency (GSD VII) is a conundrum. We observed an interesting association between phosphoglycerate kinase deficiency (GSD IX) and juvenile Parkinsonism, which is probably causal rath …
Similarly, the multisystemic infantile presentation of phosphofructokinase deficiency (GSD VII) is a conundrum. We observed an interesting a …
Metabolic causes of myoglobinuria.
Tonin P, Lewis P, Servidei S, DiMauro S. Tonin P, et al. Ann Neurol. 1990 Feb;27(2):181-5. doi: 10.1002/ana.410270214. Ann Neurol. 1990. PMID: 2156480
Enzyme defects were found in 36 patients: CPT deficiency in 17, phosphorylase deficiency in 10, phosphorylase kinase deficiency in 4, MAD deficiency in 3, PGK deficiency in 1, and a combined defect of CPT and MAD in 1. ...
Enzyme defects were found in 36 patients: CPT deficiency in 17, phosphorylase deficiency in 10, phosphorylase kinase deficiency in 4, MAD de …
64 results