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183 related items for PubMed ID: 1995000

  • 21. [Myoglobinuria and carnitine palmitoyltransferase deficiency. Diagnostic procedure and differential diagnosis].
    Kiechl S, Kohlendorfer U, Paetzke I, Sperl W, Rainer J, Willeit J.
    Wien Klin Wochenschr; 1994; 106(6):174-7. PubMed ID: 8197749
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  • 22. [Recurrent paroxysmal myoglobinuria with acute renal insufficiency caused by muscular carnitine (palmitoyltransferase deficiency. A case].
    Meunier J, Perrot D, Bret M, Pissere-Meunier J, Bouletreau P, Pasquier J, Carrier H, Berthillier G.
    Nouv Presse Med; 1982 Sep 25; 11(37):2767-71. PubMed ID: 7145668
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  • 24. [Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy].
    Imoberdorf R, Krähenbühl S, Krapf R.
    Schweiz Med Wochenschr; 1998 Jun 20; 128(25):1024-9. PubMed ID: 9691338
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  • 25. [Type II carnitine palmitoyl transferase deficiency complicated by acute respiratory failure].
    Joutel A, Moulonguet A, Demaugre F, Janowski M, Lacroix-Jousselin C, Said G.
    Rev Neurol (Paris); 1993 Jun 20; 149(12):797-9. PubMed ID: 7997741
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  • 26. [Muscular carnitine-palmityl-transferase deficiency].
    Rumpf KW, Kaiser H, Goebel HH, Wagner HA, Ullmann B, DiMauro S, Scheler F.
    Dtsch Med Wochenschr; 1983 Jul 08; 108(27):1058-61. PubMed ID: 6861647
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  • 27. Myoglobinuria in carnitine palmityltransferase deficiency.
    Rowett D.
    Int Urol Nephrol; 1982 Jul 08; 14(3):285-91. PubMed ID: 7161012
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  • 28. Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.
    Scholte HR, Jennekens FG, Bouvy JJ.
    J Neurol Sci; 1979 Jan 08; 40(1):39-51. PubMed ID: 762593
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  • 29. 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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  • 32. Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.
    Akar HT, Yıldız Y, Mutluay R, Tekin E, Tokatlı A.
    CEN Case Rep; 2024 Apr 25; 13(2):81-85. PubMed ID: 37341884
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  • 33. Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency.
    Deutsch M, Vassilopoulos D, Sevastos N, Papadimitriou A, Vasiliou K, Archimandritis AJ.
    Eur J Intern Med; 2008 Jun 25; 19(4):289-91. PubMed ID: 18471680
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  • 34. Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.
    Çakar NE, Gör Z, Yeşil G.
    Ideggyogy Sz; 2021 Mar 30; 74(3-4):135-138. PubMed ID: 33938664
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  • 35. Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.
    Bertorini T, Yeh YY, Trevisan C, Stadlan E, Sabesin S, DiMauro S.
    Neurology; 1980 Mar 30; 30(3):263-71. PubMed ID: 7189025
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  • 36. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells.
    Villard J, Fischer A, Mandon G, Collombet JM, Taroni F, Mousson B.
    J Neurol Sci; 1996 Mar 30; 136(1-2):178-81. PubMed ID: 8815169
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  • 37. Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation.
    van den Ameele J, Van Landegem W, Wuyts W, De Bleecker J.
    Acta Neurol Belg; 2008 Dec 30; 108(4):155-60. PubMed ID: 19239046
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  • 38. [Rhabdomyolysis and myoglobinuria].
    Lindner A, Zierz S.
    Nervenarzt; 2003 Jun 30; 74(6):505-15. PubMed ID: 12799789
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  • 39. Macro creatine kinase in a case of carnitine palmitoyltransferase deficiency.
    Deguchi H, Sugiyama N, Kawamura H, Uemura T, Shimizu A, Yamamoto M.
    Clin Chem; 1990 Nov 30; 36(11):1997-9. PubMed ID: 2242593
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  • 40. Heterogeneity of carnitine-palmitoyltransferase deficiency.
    Di Donato S, Castiglione A, Rimoldi M, Cornelio F, Vendemia F, Cardace G, Bertagnolio B.
    J Neurol Sci; 1981 May 30; 50(2):207-15. PubMed ID: 7229666
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