346 related articles for article (PubMed ID: 10090476)
21. Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
Musumeci O; Aguennouz M; Comi GP; Rodolico C; Autunno M; Bordoni A; Baratta S; Taroni F; Vita G; Toscano A
Neuromuscul Disord; 2007 Dec; 17(11-12):960-3. PubMed ID: 17651973
[TBL] [Abstract][Full Text] [Related]
22. Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.
Kaneoka H; Uesugi N; Moriguchi A; Hirose S; Takayanagi M; Yamaguchi S; Shigematsu Y; Yasuno T; Sasatomi Y; Saito T
Am J Kidney Dis; 2005 Mar; 45(3):596-602. PubMed ID: 15754283
[TBL] [Abstract][Full Text] [Related]
23. A novel mutation identified in carnitine palmitoyltransferase II deficiency.
Yang BZ; Ding JH; Roe D; Dewese T; Day DW; Roe CR
Mol Genet Metab; 1998 Feb; 63(2):110-5. PubMed ID: 9562964
[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. 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]
26. Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
Korman SH; Waterham HR; Gutman A; Jakobs C; Wanders RJ
Mol Genet Metab; 2005 Nov; 86(3):337-43. PubMed ID: 16146704
[TBL] [Abstract][Full Text] [Related]
27. Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.
Bruno C; Bado M; Minetti C; Cordone G; DiMauro S
J Child Neurol; 2000 Jun; 15(6):390-3. PubMed ID: 10868782
[TBL] [Abstract][Full Text] [Related]
28. Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
Mak CM; Lam CW; Fong NC; Siu WK; Lee HC; Siu TS; Lai CK; Law CY; Tong SF; Poon WT; Lam DS; Ng HL; Yuen YP; Tam S; Que TL; Kwong NS; Chan AY
J Hum Genet; 2011 Aug; 56(8):617-21. PubMed ID: 21697855
[TBL] [Abstract][Full Text] [Related]
29. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
Smeets RJ; Smeitink JA; Semmekrot BA; Scholte HR; Wanders RJ; van den Heuvel LP
J Hum Genet; 2003; 48(1):8-13. PubMed ID: 12560872
[TBL] [Abstract][Full Text] [Related]
30. [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]
31. Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
Verderio E; Cavadini P; Montermini L; Wang H; Lamantea E; Finocchiaro G; DiDonato S; Gellera C; Taroni F
Hum Mol Genet; 1995 Jan; 4(1):19-29. PubMed ID: 7711730
[TBL] [Abstract][Full Text] [Related]
32. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
IJlst L; Mandel H; Oostheim W; Ruiter JP; Gutman A; Wanders RJ
J Clin Invest; 1998 Aug; 102(3):527-31. PubMed ID: 9691089
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.
Semba S; Yasujima H; Takano T; Yokozaki H
Pathol Int; 2008 Jul; 58(7):436-41. PubMed ID: 18577113
[TBL] [Abstract][Full Text] [Related]
36. Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.
Kaufmann P; el-Schahawi M; DiMauro S
Mol Cell Biochem; 1997 Sep; 174(1-2):237-9. PubMed ID: 9309694
[TBL] [Abstract][Full Text] [Related]
37. Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Prip-Buus C; Thuillier L; Abadi N; Prasad C; Dilling L; Klasing J; Demaugre F; Greenberg CR; Haworth JC; Droin V; Kadhom N; Gobin S; Kamoun P; Girard J; Bonnefont JP
Mol Genet Metab; 2001 May; 73(1):46-54. PubMed ID: 11350182
[TBL] [Abstract][Full Text] [Related]
38. [Metabolic intolerance to exercise].
Arenas J; Martín MA
Neurologia; 2003; 18(6):291-302. PubMed ID: 12838448
[TBL] [Abstract][Full Text] [Related]
39. Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D; Motlagh L; Robaa D; Zierz S
Int J Mol Sci; 2017 Jan; 18(1):. PubMed ID: 28054946
[TBL] [Abstract][Full Text] [Related]
40. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
