These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 7195512)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.
    Meola G; Bresolin N; Rimoldi M; Velicogna M; Fortunato F; Scarlato G
    J Neurol; 1987 Dec; 235(2):74-9. PubMed ID: 3430194
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. [Muscular carnitine-palmityl-transferase deficiency].
    Rumpf KW; Kaiser H; Goebel HH; Wagner HA; Ullmann B; DiMauro S; Scheler F
    Dtsch Med Wochenschr; 1983 Jul; 108(27):1058-61. PubMed ID: 6861647
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Myoglobinuria and carnitine palmityl transferase deficiency in father and son.
    Mongini T; Doriguzzi C; Palmucci L; Chiadò-Piat L; Maniscalco M; Schiffer D
    J Neurol; 1991 Sep; 238(6):323-4. PubMed ID: 1940982
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 298(10):553-7. PubMed ID: 272487
    [No Abstract]   [Full Text] [Related]  

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

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

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.
    Trevisan CP; Angelini C; Freddo L; Isaya G; Martinuzzi A
    Neurology; 1984 Mar; 34(3):353-6. PubMed ID: 6538275
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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; 41(4):377-84. PubMed ID: 6661102
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency.
    Patten BM; Wood JM; Harati Y; Hefferan P; Howell RR
    Am J Med; 1979 Jul; 67(1):167-71. PubMed ID: 463910
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Myoglobinuria in carnitine palmityltransferase deficiency.
    Rowett D
    Int Urol Nephrol; 1982; 14(3):285-91. PubMed ID: 7161012
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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; 80(11):1623-8. PubMed ID: 6935889
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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; 11(37):2767-71. PubMed ID: 7145668
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Carnitine-palmityl-transferase deficiency.
    Cumming WJ; Hardy M; Hudgson P; Walls J
    J Neurol Sci; 1976 Dec; 30(2-3):247-58. PubMed ID: 187736
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.