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22. [Changes in carnitine metabolism. A case report about probable partial deficiency of muscle carnitine palmitoyltransferase]. De Prà M; Oberti F; De Benedittis A Pediatr Med Chir; 1990; 12(4):397-403. PubMed ID: 2075107 [TBL] [Abstract][Full Text] [Related]
24. Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs. Meir K; Fellig Y; Meiner V; Korman SH; Shaag A; Nadjari M; Soffer D; Ariel I Pediatr Dev Pathol; 2009; 12(6):481-6. PubMed ID: 19335026 [TBL] [Abstract][Full Text] [Related]
25. The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies. Hargreaves IP; Heales SJ; Olpin SE; Morgan-Ughes JA; Land JM J Inherit Metab Dis; 2000 Jun; 23(4):352-4. PubMed ID: 10896292 [No Abstract] [Full Text] [Related]
26. Genetics of carnitine palmitoyltransferase II deficiencies. Wieser T; Deschauer M; Zierz S Adv Exp Med Biol; 1999; 466():339-45. PubMed ID: 10709661 [No Abstract] [Full Text] [Related]
30. [Recurrent myoglobinuria in a girl due to carnitine palmitoyltransferase deficiency]. Carrasco Marina LL; Ramos Lizana J; Vázquez López M; Garrote de Marcos JM; Arregui Sierra A; Bornstein B; Arenas J An Esp Pediatr; 1996 Jan; 44(1):67-9. PubMed ID: 8849066 [No Abstract] [Full Text] [Related]
31. Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome. Bellusci M; Quijada-Fraile P; Barrio-Carreras D; Martin-Hernandez E; Garcia-Silva M; Merinero B; Perez B; Hernandez-Lain A J Inherit Metab Dis; 2017 Sep; 40(5):751-752. PubMed ID: 28466427 [No Abstract] [Full Text] [Related]
32. Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency. Roomets E; Lundbom N; Pihko H; Heikkinen S; Tyni T Neurology; 2006 Oct; 67(8):1516-7. PubMed ID: 17060594 [No Abstract] [Full Text] [Related]
33. Neonatal carnitine palmitoyltransferase deficiency: a case with a muscular presentation. Land JM; Mistry S; Squier W; Hope P; Orford M; Saggerson ED Prog Clin Biol Res; 1992; 375():309-15. PubMed ID: 1438376 [No Abstract] [Full Text] [Related]
34. Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. Hogan KJ; Vladutiu GD Anesth Analg; 2009 Oct; 109(4):1070-2. PubMed ID: 19762733 [TBL] [Abstract][Full Text] [Related]
35. Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. Stoler JM; Sabry MA; Hanley C; Hoppel CL; Shih VE J Inherit Metab Dis; 2004; 27(5):679-84. PubMed ID: 15669684 [TBL] [Abstract][Full Text] [Related]
36. [Myopathies related to lipid metabolism disorders (review of the literature)]. Aingorn ED; Zhurba LT; Koroleva IA; Timonina OV; Sitnikov VF Zh Nevropatol Psikhiatr Im S S Korsakova; 1979; 79(10):1441-4. PubMed ID: 494923 [No Abstract] [Full Text] [Related]
37. [Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy]. Imoberdorf R; Krähenbühl S; Krapf R Schweiz Med Wochenschr; 1998 Jun; 128(25):1024-9. PubMed ID: 9691338 [TBL] [Abstract][Full Text] [Related]
38. Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency. Ogawa E; Kanazawa M; Yamamoto S; Ohtsuka S; Ogawa A; Ohtake A; Takayanagi M; Kohno Y J Hum Genet; 2002; 47(7):342-7. PubMed ID: 12111367 [TBL] [Abstract][Full Text] [Related]
39. Lethal neonatal deficiency of carnitine palmitoyltransferase 2. Scholte HR; van Tol A N Engl J Med; 1992 Jul; 327(1):56. PubMed ID: 1598114 [No Abstract] [Full Text] [Related]
40. 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; 118(1210):U1320. PubMed ID: 15776096 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]