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Journal Abstract Search

145 related items for PubMed ID: 123038

  • 1. 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]

  • 2. [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 Feb 27; 80(11):1623-8. PubMed ID: 6935889
    [Abstract] [Full Text] [Related]

  • 3. Biochemical and physiologic consequences of carnitine palmityltransferase deficiency.
    Carroll JE, Brooke MH, DeVivo DC, Kaiser KK, Hagberg JM.
    Muscle Nerve; 1978 Feb 27; 1(2):103-10. PubMed ID: 750917
    [Abstract] [Full Text] [Related]

  • 4. [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
    [Abstract] [Full Text] [Related]

  • 5. Disorders of lipid metabolism in muscle.
    Di Mauro S, Trevisan C, Hays A.
    Muscle Nerve; 1980 Sep 25; 3(5):369-88. PubMed ID: 7421873
    [Abstract] [Full Text] [Related]

  • 6. Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production.
    Hostetler KY, Hoppel CL, Romine JS, Sipe JC, Gross SR, Higginbottom PA.
    N Engl J Med; 1978 Mar 09; 298(10):553-7. PubMed ID: 272487
    [No Abstract] [Full Text] [Related]

  • 7. Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency.
    Reza MJ, Kar NC, Pearson CM, Kark RA.
    Ann Intern Med; 1978 May 09; 88(5):610-5. PubMed ID: 646243
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [Muscle carnitine deficiency associated with myalgia and rhabdomyolysis following exercise].
    Miyajima H, Sakamoto M, Takahashi Y, Mizoguchi K, Nishimura Y.
    Rinsho Shinkeigaku; 1989 Jan 25; 29(1):93-7. PubMed ID: 2743689
    [Abstract] [Full Text] [Related]

  • 10. [A female case of carnitine palmitoyltransferase deficiency].
    Taniwaki T, Kira J, Kitaguchi T, Goto I, Sugiyama N.
    Rinsho Shinkeigaku; 1989 Mar 25; 29(3):382-4. PubMed ID: 2752669
    [Abstract] [Full Text] [Related]

  • 11. Muscle carnitine palmityltransferase deficiency and myoglobinuria.
    DiMauro S, DiMauro PM.
    Science; 1973 Nov 20; 182(4115):929-31. PubMed ID: 4745596
    [Abstract] [Full Text] [Related]

  • 12. Familial combined deficiency of muscle carnitine and carnitine palmityl transferase (CPT).
    Skard Heier M, Dietrichson P, Landaas S.
    Acta Neurol Scand; 1986 Dec 20; 74(6):479-85. PubMed ID: 3825503
    [Abstract] [Full Text] [Related]

  • 13. Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency.
    Herman J, Nadler HL.
    J Pediatr; 1977 Aug 20; 91(2):247-50. PubMed ID: 874682
    [Abstract] [Full Text] [Related]

  • 14. [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
    [Abstract] [Full Text] [Related]

  • 15. A skeletal-muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism.
    Engel WK, Vick NA, Glueck CJ, Levy RI.
    N Engl J Med; 1970 Mar 26; 282(13):697-704. PubMed ID: 5416202
    [No Abstract] [Full Text] [Related]

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  • 17. Influenza and myoglobinuria in brothers.
    Zamkoff K, Rosen N.
    Neurology; 1979 Mar 26; 29(3):340-5. PubMed ID: 571980
    [Abstract] [Full Text] [Related]

  • 18. Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.
    Bertorini T, Yeh YY, Trevisan C, Stadlan E, Sabesin S, DiMauro S.
    Neurology; 1980 Mar 26; 30(3):263-71. PubMed ID: 7189025
    [Abstract] [Full Text] [Related]

  • 19. [Myopathy due to carnitine palmitoyltransferase deficiency. Report of 2 cases with enzymatic analyses on muscle tissue].
    Werneck LC, Boer CA, Papadimitriou A, Di Mauro S.
    Arq Neuropsiquiatr; 1983 Dec 26; 41(4):377-84. PubMed ID: 6661102
    [Abstract] [Full Text] [Related]

  • 20. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.
    Gahl WA, Bernardini I, Dalakas M, Rizzo WB, Harper GS, Hoeg JM, Hurko O, Bernar J.
    J Clin Invest; 1988 Feb 26; 81(2):549-60. PubMed ID: 3276734
    [Abstract] [Full Text] [Related]

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