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Journal Abstract Search

190 related items for PubMed ID: 762593

  • 1. 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; 40(1):39-51. PubMed ID: 762593
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  • 4. Selective carnitine palmitoyltransferase deficiency in fibroblasts from a patient with muscle CPT deficiency.
    Pula TP, Max SR, Zielke HR, Chacon M, Baab P, Gumbinas M, Reed WD.
    Ann Neurol; 1981 Aug; 10(2):196-8. PubMed ID: 7283405
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  • 7. Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.
    Angelini C, Freddo L, Battistella P, Bresolin N, Pierobon-Bormioli S, Armani M, Vergani L.
    Neurology; 1981 Jul; 31(7):883-6. PubMed ID: 7195512
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  • 9. 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; 50(2):207-15. PubMed ID: 7229666
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  • 11. Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.
    Ionasescu V, Hug G, Hoppel C.
    J Neurol Neurosurg Psychiatry; 1980 Aug; 43(8):679-82. PubMed ID: 7431028
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  • 12. Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
    Lehmann D, Motlagh L, Robaa D, Zierz S.
    Int J Mol Sci; 2017 Jan 03; 18(1):. PubMed ID: 28054946
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  • 14. Carnitine acyltransferases in normal human skeletal muscle and in muscle of patients with carnitine palmitoyltransferase deficiency.
    Neumann-Schmidt S, Zierz S.
    Neuromuscul Disord; 1991 Jan 03; 1(4):253-60. PubMed ID: 1822803
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  • 16. Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.
    DiDonato S, Cornelio F, Pacini L, Peluchetti D, Rimoldi M, Spreafico S.
    Ann Neurol; 1978 Nov 03; 4(5):465-7. PubMed ID: 736528
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  • 19. 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
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