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Journal Abstract Search

98 related items for PubMed ID: 7348995

  • 1. Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria.
    DiMauro S, Dalakas M, Miranda AF.
    Trans Am Neurol Assoc; 1981; 106():202-5. PubMed ID: 7348995
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  • 2. 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. PubMed ID: 6544372
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  • 4. Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.
    Shirakawa K, Takahashi Y, Miyajima H.
    Neurology; 2006 Mar 28; 66(6):925-7. PubMed ID: 16567715
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  • 7. 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 28; 19(3):207-11. PubMed ID: 19157875
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  • 9. Case 4: Recurrent Orange Urine and Abdominal Pain in a 13-year-old Boy.
    Newman J, Kandikattu B.
    Pediatr Rev; 2018 Jul 28; 39(7):370-371. PubMed ID: 29967083
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  • 10. Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
    Tsujino S, Shanske S, DiMauro S.
    Muscle Nerve Suppl; 1995 Jul 28; 3():S45-9. PubMed ID: 7603527
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  • 14. [1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency].
    Ito M, Sugie H, Sugie Y, Furukawa N, Igarashi Y.
    No To Hattatsu; 1992 May 28; 24(3):244-9. PubMed ID: 1591023
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  • 15. 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 28; 43(2):387-91. PubMed ID: 7679780
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  • 17. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases.
    Kilfoyle D, Hutchinson D, Potter H, George P.
    N Z Med J; 2005 Feb 25; 118(1210):U1320. PubMed ID: 15776096
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  • 18. Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.
    Elpeleg ON, Saada AB, Shaag A, Glustein JZ, Ruitenbeek W, Tein I, Halevy J.
    Muscle Nerve; 1997 Feb 25; 20(2):238-40. PubMed ID: 9040667
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  • 19. Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiency.
    Rhodes M, Ashford L, Manes B, Calder C, Domm J, Frangoul H.
    Br J Haematol; 2011 Feb 25; 152(4):500-2. PubMed ID: 21223252
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  • 20. Mitochondrial changes in muscle phosphoglycerate kinase deficiency.
    Schröder JM, Dodel R, Weis J, Stefanidis I, Reichmann H.
    Clin Neuropathol; 1996 Feb 25; 15(1):34-40. PubMed ID: 8998855
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