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26. Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan. Tsuburaya R; Sakamoto O; Arai N; Kobayashi H; Hasegawa Y; Yamaguchi S; Shigematsu Y; Takayanagi M; Ohura T; Tsuchiya S Brain Dev; 2010 May; 32(5):409-11. PubMed ID: 19345525 [TBL] [Abstract][Full Text] [Related]
27. Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. Yang BZ; Ding JH; Dewese T; Roe D; He G; Wilkinson J; Day DW; Demaugre F; Rabier D; Brivet M; Roe C Mol Genet Metab; 1998 Aug; 64(4):229-36. PubMed ID: 9758712 [TBL] [Abstract][Full Text] [Related]
29. [Rhabdomyolysis caused by carnitine palmitoyltransferase deficiency]. Weber M; Goebel HH; Wandel E; Gerken G; DiMauro S; Köhler H Med Klin (Munich); 1987 Apr; 82(7-8):297-9. PubMed ID: 3587175 [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. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. North KN; Hoppel CL; De Girolami U; Kozakewich HP; Korson MS J Pediatr; 1995 Sep; 127(3):414-20. PubMed ID: 7658272 [TBL] [Abstract][Full Text] [Related]
32. [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]
33. [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]
34. 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; 4(5):465-7. PubMed ID: 736528 [TBL] [Abstract][Full Text] [Related]
35. Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. Deutsch M; Vassilopoulos D; Sevastos N; Papadimitriou A; Vasiliou K; Archimandritis AJ Eur J Intern Med; 2008 Jun; 19(4):289-91. PubMed ID: 18471680 [TBL] [Abstract][Full Text] [Related]
36. Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants. Gessner BD; Gillingham MB; Johnson MA; Richards CS; Lambert WE; Sesser D; Rien LC; Hermerath CA; Skeels MR; Birch S; Harding CO; Wood T; Koeller DM J Pediatr; 2011 Jan; 158(1):124-9. PubMed ID: 20843525 [TBL] [Abstract][Full Text] [Related]