Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 145

1.

Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation.

Hamano T, Mutoh T, Sugie H, Koga H, Kuriyama M.

Neurology. 2000 Mar 14;54(5):1188-90.

PMID:
10720297
2.

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).

Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, Chen YT, DiMauro S.

Ann Neurol. 1994 Mar;35(3):349-53.

PMID:
8122886
3.

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

Spiegel R, Gomez EA, Akman HO, Krishna S, Horovitz Y, DiMauro S.

Neuromuscul Disord. 2009 Mar;19(3):207-11. doi: 10.1016/j.nmd.2008.12.004. Epub 2009 Jan 20.

PMID:
19157875
4.

Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)

Tonin P, Shanske S, Miranda AF, Brownell AK, Wyse JP, Tsujino S, DiMauro S.

Neurology. 1993 Feb;43(2):387-91.

PMID:
7679780
5.

Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme.

Bresolin N, Miranda A, Chang HW, Shanske S, DiMauro S.

Muscle Nerve. 1984 Sep;7(7):542-51.

PMID:
6544372
6.

Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens.

Cohen-Solal M, Valentin C, Plassa F, Guillemin G, Danze F, Jaisson F, Rosa R.

Blood. 1994 Aug 1;84(3):898-903.

7.

A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency.

Sugie H, Sugie Y, Ito M, Fukuda T.

J Child Neurol. 1998 Feb;13(2):95-7. No abstract available.

PMID:
9512313
9.

[Phosphoglycerate kinase deficiency].

Tsujino S.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):70-3. Review. Japanese. No abstract available.

PMID:
9589992
10.

Mitochondrial changes in muscle phosphoglycerate kinase deficiency.

Schröder JM, Dodel R, Weis J, Stefanidis I, Reichmann H.

Clin Neuropathol. 1996 Jan-Feb;15(1):34-40.

PMID:
8998855
11.

Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation.

Ramírez-Bajo MJ, Repiso A, la Ossa PP, Bañón-Maneus E, de Atauri P, Climent F, Corrons JL, Cascante M, Carreras J.

Blood Cells Mol Dis. 2011 Mar 15;46(3):206-11. doi: 10.1016/j.bcmd.2010.12.009. Epub 2011 Jan 26.

PMID:
21269848
12.

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.

Tsujino S, Shanske S, DiMauro S.

Muscle Nerve Suppl. 1995;3:S45-9.

PMID:
7603527
14.
15.
16.

Myopathy and parkinsonism in phosphoglycerate kinase deficiency.

Sotiriou E, Greene P, Krishna S, Hirano M, DiMauro S.

Muscle Nerve. 2010 May;41(5):707-10. doi: 10.1002/mus.21612.

PMID:
20151463
17.

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

DiMauro S, Dalakas M, Miranda AF.

Ann Neurol. 1983 Jan;13(1):11-9.

PMID:
6830158
18.

PGK deficiency.

Beutler E.

Br J Haematol. 2007 Jan;136(1):3-11. Review.

PMID:
17222195
19.

Phosphoglycerate kinase abnormalities: functional, structural and genomic aspects.

Yoshida A, Tani K.

Biomed Biochim Acta. 1983;42(11-12):S263-7.

PMID:
6689547
20.

Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.

Noel N, Flanagan JM, Ramirez Bajo MJ, Kalko SG, Mañú Mdel M, Garcia Fuster JL, Perez de la Ossa P, Carreras J, Beutler E, Vives Corrons JL.

Br J Haematol. 2006 Feb;132(4):523-9. Erratum in: Br J Haematol. 2006 May;133(4):451. Flanagan, John [corrected to Flanagan, Jonathan M]; Perez de la Ossa, Pablo [added]; Carreras, Josep [added].

PMID:
16412025
Items per page

Supplemental Content

Write to the Help Desk