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Journal Abstract Search

542 related items for PubMed ID: 7421873

  • 1. Disorders of lipid metabolism in muscle.
    Di Mauro S, Trevisan C, Hays A.
    Muscle Nerve; 1980; 3(5):369-88. PubMed ID: 7421873
    [Abstract] [Full Text] [Related]

  • 2. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
    Stanley CA.
    Adv Pediatr; 1987; 34():59-88. PubMed ID: 3318304
    [Abstract] [Full Text] [Related]

  • 3. [Carnitine deficiency].
    Schmidt-Sommerfeld E, Penn D.
    Monatsschr Kinderheilkd; 1986 May; 134(5):224-31. PubMed ID: 3014317
    [Abstract] [Full Text] [Related]

  • 4. Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy.
    Videen JS, Haseler LJ, Karpinski NC, Terkeltaub RA.
    J Rheumatol; 1999 Aug; 26(8):1757-63. PubMed ID: 10451074
    [Abstract] [Full Text] [Related]

  • 5. Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency.
    Angelini C, Trevisan C, Isaya G, Pegolo G, Vergani L.
    Clin Biochem; 1987 Feb; 20(1):1-7. PubMed ID: 3552320
    [Abstract] [Full Text] [Related]

  • 6. Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency.
    Trevisan CP, Reichmann H, DeVivo DC, DiMauro S.
    Muscle Nerve; 1985 Oct; 8(8):672-5. PubMed ID: 2932640
    [Abstract] [Full Text] [Related]

  • 7. Carnitine deficiency disorders in children.
    Stanley CA.
    Ann N Y Acad Sci; 2004 Nov; 1033():42-51. PubMed ID: 15591002
    [Abstract] [Full Text] [Related]

  • 8. [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
    [Abstract] [Full Text] [Related]

  • 9. [Carnitine deficiency myopathy: a case of late diagnosis].
    Rico Corral MA, de la Vega Vázquez JM, Holgado Silva C, Aznar Martín A, Zamora Madaría E.
    An Med Interna; 2002 Aug 20; 19(8):415-8. PubMed ID: 12244790
    [Abstract] [Full Text] [Related]

  • 10. [Lipid metabolism disorder in skeletal musculature (carnitine palmitoyltransferase deficiency) and paroxysmal myoglobinuria].
    Aver'ianov IuN, Aleksandrovskaia TN, Kal'nova LI, Morozova EA, Shaldaeva VV.
    Zh Nevropatol Psikhiatr Im S S Korsakova; 1980 Aug 20; 80(11):1623-8. PubMed ID: 6935889
    [Abstract] [Full Text] [Related]

  • 11. Partial deficiency of carnitine palmityltransferase: physiologic and biochemical consequences.
    Layzer RB, Havel RJ, McIlroy MB.
    Neurology; 1980 Jun 20; 30(6):627-33. PubMed ID: 7189839
    [Abstract] [Full Text] [Related]

  • 12. [Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form].
    Bonnefont JP, Ogier H, Mitchell G, Demaugre F, Pelet A, Saudubray JM, Frezal J.
    Arch Fr Pediatr; 1985 Jun 20; 42 Suppl 1():613-7. PubMed ID: 4083994
    [Abstract] [Full Text] [Related]

  • 13. A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase.
    Bank WJ, DiMauro S, Bonilla E, Capuzzi DM, Rowland LP.
    N Engl J Med; 1975 Feb 27; 292(9):443-9. PubMed ID: 123038
    [Abstract] [Full Text] [Related]

  • 14. Lipid storage myopathies.
    Bruno C, Dimauro S.
    Curr Opin Neurol; 2008 Oct 27; 21(5):601-6. PubMed ID: 18769256
    [Abstract] [Full Text] [Related]

  • 15. [Lipidic myopathies].
    Muñoz-Blanco JL.
    Rev Neurol; 1998 Apr 27; 26 Suppl 1():S72-80. PubMed ID: 9810593
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. [Intolerance to exercise caused by carnitine palmitoyltransferase deficiency].
    Desnuelle C, Pellissier JF, de Barsy T, Serratrice G.
    Rev Neurol (Paris); 1990 Feb 25; 146(3):231-4. PubMed ID: 2184487
    [Abstract] [Full Text] [Related]

  • 18. Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
    Martín MA, Rubio JC, del Hoyo P, García A, Bustos F, Campos Y, Cabello A, Culebras JM, Arenas J.
    Hum Mutat; 2000 Jun 25; 15(6):579-80. PubMed ID: 10862092
    [Abstract] [Full Text] [Related]

  • 19. Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage.
    Dalakas MC, Leon-Monzon ME, Bernardini I, Gahl WA, Jay CA.
    Ann Neurol; 1994 Apr 25; 35(4):482-7. PubMed ID: 8154877
    [Abstract] [Full Text] [Related]

  • 20. The syndrome of carnitine deficiency.
    Di Donato S, Cornelio F.
    Riv Patol Nerv Ment; 1976 Aug 25; 97(4):181-5. PubMed ID: 1032033
    [Abstract] [Full Text] [Related]

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