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.
167 related articles for article (PubMed ID: 8358442)
21. Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients. Trevisan CP; Isaya G; Angelini C Neurology; 1987 Jul; 37(7):1184-8. PubMed ID: 3601082 [TBL] [Abstract][Full Text] [Related]
22. 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]
23. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Wataya K; Akanuma J; Cavadini P; Aoki Y; Kure S; Invernizzi F; Yoshida I; Kira J; Taroni F; Matsubara Y; Narisawa K Hum Mutat; 1998; 11(5):377-86. PubMed ID: 9600456 [TBL] [Abstract][Full Text] [Related]
24. 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]
25. Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency. Lehmann D; Zierz S J Neurol Sci; 2014 Apr; 339(1-2):183-8. PubMed ID: 24602495 [TBL] [Abstract][Full Text] [Related]
26. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. Joshi PR; Deschauer M; Zierz S J Neurol Sci; 2014 Mar; 338(1-2):107-11. PubMed ID: 24398345 [TBL] [Abstract][Full Text] [Related]
27. Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation. Rafay MF; Murphy EG; McGarry JD; Kaufmann P; DiMauro S; Tein I Can J Neurol Sci; 2005 Aug; 32(3):316-20. PubMed ID: 16225172 [TBL] [Abstract][Full Text] [Related]
28. Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Taroni F; Verderio E; Fiorucci S; Cavadini P; Finocchiaro G; Uziel G; Lamantea E; Gellera C; DiDonato S Proc Natl Acad Sci U S A; 1992 Sep; 89(18):8429-33. PubMed ID: 1528846 [TBL] [Abstract][Full Text] [Related]
29. First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L. Shima A; Yasuno T; Yamada K; Yamaguchi M; Kohno R; Yamaguchi S; Kido H; Fukuda H Intern Med; 2016; 55(18):2659-61. PubMed ID: 27629963 [TBL] [Abstract][Full Text] [Related]
30. 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]
31. [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]
32. Characterization of compound missense mutation and deletion of carnitine palmitoyltransferase II in a patient with adenovirus-associated encephalopathy. Yao D; Yao M; Yamaguchi M; Chida J; Kido H J Med Invest; 2011 Aug; 58(3-4):210-8. PubMed ID: 21921422 [TBL] [Abstract][Full Text] [Related]
33. 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]
34. Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency. Vladutiu GD Muscle Nerve; 1999 Jul; 22(7):949-51. PubMed ID: 10398218 [TBL] [Abstract][Full Text] [Related]
35. Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. Martín MA; Rubio JC; De Bustos F; Del Hoyo P; Campos Y; García A; Börnstein B; Cabello A; Arenas J Muscle Nerve; 1999 Jul; 22(7):941-3. PubMed ID: 10398215 [TBL] [Abstract][Full Text] [Related]
36. Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports. Avila-Smirnow D; Boutron A; Beytía-Reyes MLÁ; Contreras-Olea O; Caicedo-Feijoo A; Gejman-Enríquez R; Escobar-Henríquez R; Förster-Mujica J J Med Case Rep; 2018 Aug; 12(1):249. PubMed ID: 30149802 [TBL] [Abstract][Full Text] [Related]
37. 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]
38. Myoglobinuria in carnitine palmityltransferase deficiency. Rowett D Int Urol Nephrol; 1982; 14(3):285-91. PubMed ID: 7161012 [TBL] [Abstract][Full Text] [Related]
39. 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]
40. Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation. van den Ameele J; Van Landegem W; Wuyts W; De Bleecker J Acta Neurol Belg; 2008 Dec; 108(4):155-60. PubMed ID: 19239046 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]