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2. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. DiMauro S, Dalakas M, Miranda AF. Ann Neurol; 1983 Jan; 13(1):11-9. PubMed ID: 6830158 [Abstract] [Full Text] [Related]
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. PubMed ID: 19157875 [Abstract] [Full Text] [Related]
4. 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. PubMed ID: 8122886 [Abstract] [Full Text] [Related]
13. Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. DiMauro S, Dalakas M, Miranda AF. Trans Am Neurol Assoc; 1981 Aug; 106():202-5. PubMed ID: 7348995 [No Abstract] [Full Text] [Related]
14. A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. Valentin C, Birgens H, Craescu CT, Brødum-Nielsen K, Cohen-Solal M. Hum Mutat; 1998 Aug; 12(4):280-7. PubMed ID: 9744480 [Abstract] [Full Text] [Related]
17. The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. Flanagan JM, Rhodes M, Wilson M, Beutler E. Br J Haematol; 2006 Jul; 134(2):233-7. PubMed ID: 16740138 [Abstract] [Full Text] [Related]