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2. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Deschauer M; Wieser T; Zierz S Arch Neurol; 2005 Jan; 62(1):37-41. PubMed ID: 15642848 [TBL] [Abstract][Full Text] [Related]
3. Carnitine palmitoyltransferase deficiency: a common cause of recurrent myoglobinuria. Sadeh M; Gutman A Isr J Med Sci; 1990 Sep; 26(9):510-5. PubMed ID: 2228562 [TBL] [Abstract][Full Text] [Related]
4. [A female case of carnitine palmitoyltransferase deficiency]. Taniwaki T; Kira J; Kitaguchi T; Goto I; Sugiyama N Rinsho Shinkeigaku; 1989 Mar; 29(3):382-4. PubMed ID: 2752669 [TBL] [Abstract][Full Text] [Related]
5. Metabolic causes of myoglobinuria. Tonin P; Lewis P; Servidei S; DiMauro S Ann Neurol; 1990 Feb; 27(2):181-5. PubMed ID: 2156480 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. [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]
8. [Myoglobinuria due to a deficiency of carnitine palmitoyltransferase II. A clinical case report]. Venturini E; Pupeschi L Recenti Prog Med; 1994 May; 85(5):282-3. PubMed ID: 8023007 [TBL] [Abstract][Full Text] [Related]
9. [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]
10. [Intolerance to exercise caused by carnitine palmitoyltransferase deficiency]. Desnuelle C; Pellissier JF; de Barsy T; Serratrice G Rev Neurol (Paris); 1990; 146(3):231-4. PubMed ID: 2184487 [TBL] [Abstract][Full Text] [Related]
11. [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]
12. [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]
13. 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; 15(6):579-80. PubMed ID: 10862092 [TBL] [Abstract][Full Text] [Related]
14. [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]
15. Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review. Faigel HC J Am Coll Health; 1995 Sep; 44(2):51-4. PubMed ID: 7593992 [TBL] [Abstract][Full Text] [Related]
17. 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 [TBL] [Abstract][Full Text] [Related]
18. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. Villard J; Fischer A; Mandon G; Collombet JM; Taroni F; Mousson B J Neurol Sci; 1996 Mar; 136(1-2):178-81. PubMed ID: 8815169 [TBL] [Abstract][Full Text] [Related]
19. A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. Deschauer M; Wieser T; Schröder R; Zierz S Mol Genet Metab; 2002 Feb; 75(2):181-5. PubMed ID: 11855939 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]