155 related articles for article (PubMed ID: 1438376)
1. 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]
2. Pathology of inflammatory and metabolic myopathies.
Armbrustmacher VW; Griffin JL
Pathol Annu; 1981; 16 Pt 1():15-60. PubMed ID: 6949130
[No Abstract] [Full Text] [Related]
3. Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry.
Gempel K; Kottlors M; Jaksch M; Gerbitz KD; Bauer MF
J Inherit Metab Dis; 1999 Dec; 22(8):941-2. PubMed ID: 10604150
[No Abstract] [Full Text] [Related]
4. Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.
Carey MP; Poulton K; Hawkins C; Murphy RP
J Neurol Neurosurg Psychiatry; 1987 Aug; 50(8):1060-2. PubMed ID: 3655814
[TBL] [Abstract][Full Text] [Related]
5. Pathophysiological approach to carnitine palmitoyltransferase II deficiencies.
Demaugre F; Bonnefont JP; Brivet M; Cepanec C; Pollitt RJ; Priestley BL; Saudubray JM; Leroux JP
Prog Clin Biol Res; 1992; 375():301-8. PubMed ID: 1438375
[No Abstract] [Full Text] [Related]
6. [Hereditary metabolic muscular diseases caused by demonstrable enzyme defect].
Kuhn E
Dtsch Med Wochenschr; 1980 Oct; 105(42):1469-73. PubMed ID: 6450673
[No Abstract] [Full Text] [Related]
7. Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.
Taroni F; Verderio E; Garavaglia B; Fiorucci S; Finocchiaro G; Uziel G; DiDonato S
Prog Clin Biol Res; 1992; 375():521-31. PubMed ID: 1438396
[No Abstract] [Full Text] [Related]
8. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Isackson PJ; Bennett MJ; Lichter-Konecki U; Willis M; Nyhan WL; Sutton VR; Tein I; Vladutiu GD
Mol Genet Metab; 2008 Aug; 94(4):422-427. PubMed ID: 18550408
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form].
Bonnefont JP; Ogier H; Mitchell G; Demaugre F; Pelet A; Saudubray JM; Frezal J
Arch Fr Pediatr; 1985; 42 Suppl 1():613-7. PubMed ID: 4083994
[TBL] [Abstract][Full Text] [Related]
11. [Carnitine palmitoyltransferase deficiency: fatty acid utilization defect causing myopathy].
Lehtonen A; Paljärvi L; Falck B; Somer H; Kalimo H
Duodecim; 1983; 99(16):1063-9. PubMed ID: 6641545
[No Abstract] [Full Text] [Related]
12. [Metabolic myopathies].
Zellweger H
Padiatr Grenzgeb; 1984; 23(5):327-38. PubMed ID: 6504540
[No Abstract] [Full Text] [Related]
13. [Clinical and biochemical approach to mitochondrial cytopathy--carnitine palmitoyltransferase deficiency].
Sugiyama N
No To Hattatsu; 1987 Mar; 19(2):140-9. PubMed ID: 3548761
[No Abstract] [Full Text] [Related]
14. 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]
15. [2 causes of muscle ache and reddish-brown urine following exertion].
Jennekens FG; Scholte HR; Koster JF; Bouvy JJ
Ned Tijdschr Geneeskd; 1979 Sep; 123(36):1562-8. PubMed ID: 289908
[No Abstract] [Full Text] [Related]
16. [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]
17. [Lipid storage myopathies--carnitine deficiency, carnitine palmitoyltransferase deficiency, pyruvate decarboxylase deficiency].
Itagaki Y; Nishitani H
Nihon Rinsho; 1990 Jul; 48(7):1510-6. PubMed ID: 2402068
[No Abstract] [Full Text] [Related]
18. Disorders of lipid metabolism in muscle.
Di Mauro S; Trevisan C; Hays A
Muscle Nerve; 1980; 3(5):369-88. PubMed ID: 7421873
[TBL] [Abstract][Full Text] [Related]
19. [Carnitine deficiency].
Schmidt-Sommerfeld E; Penn D
Monatsschr Kinderheilkd; 1986 May; 134(5):224-31. PubMed ID: 3014317
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]
