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.
24. Primary carnitine deficiency. Scholte HR; Rodrigues Pereira R; de Jonge PC; Luyt-Houwen IE; Hedwig M; Verduin M; Ross JD J Clin Chem Clin Biochem; 1990 May; 28(5):351-7. PubMed ID: 2199596 [TBL] [Abstract][Full Text] [Related]
25. Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. Glasgow AM; Engel AG; Bier DM; Perry LW; Dickie M; Todaro J; Brown BI; Utter MF Pediatr Res; 1983 May; 17(5):319-26. PubMed ID: 6682967 [TBL] [Abstract][Full Text] [Related]
26. Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency. Tein I; DiMauro S; Xie ZW; De Vivo DC Pediatr Res; 1993 Sep; 34(3):281-7. PubMed ID: 8134167 [TBL] [Abstract][Full Text] [Related]
27. Dilated Cardiomyopathy as the Only Clinical Manifestation of Carnitine Transporter Deficiency. Papadopoulou-Legbelou K; Gogou M; Dokousli V; Eboriadou M; Evangeliou A Indian J Pediatr; 2017 Mar; 84(3):231-233. PubMed ID: 27807682 [TBL] [Abstract][Full Text] [Related]
28. Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system. Christensen E; Vikre-Jørgensen J J Inherit Metab Dis; 1995; 18(2):233-6. PubMed ID: 7564256 [No Abstract] [Full Text] [Related]
29. Dilated cardiomyopathy with endocardial fibroelastosis in a juvenile Pallas cat. Gudenschwager EK; Abbott JA; LeRoith T J Vet Diagn Invest; 2019 Mar; 31(2):289-293. PubMed ID: 30694111 [TBL] [Abstract][Full Text] [Related]
30. Carnitine transport defect in fibroblasts of juvenile visceral steatosis (JVS) mouse. Kuwajima M; Lu K; Harashima H; Ono A; Sato I; Mizuno A; Murakami T; Nakajima H; Miyagawa J; Namba M; Hanafusa T; Hayakawa J; Matsuzawa Y; Shima K Biochem Biophys Res Commun; 1996 Jun; 223(2):283-7. PubMed ID: 8670273 [TBL] [Abstract][Full Text] [Related]
31. Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. Takahashi S; Kanetake J; Moriya T; Funayama M Leg Med (Tokyo); 2008 Sep; 10(5):277-80. PubMed ID: 18442941 [TBL] [Abstract][Full Text] [Related]
32. The progression of interstitial myocarditis to idiopathic endocardial fibroelastosis. Hutchins GM; Vie SA Am J Pathol; 1972 Mar; 66(3):483-96. PubMed ID: 5060581 [TBL] [Abstract][Full Text] [Related]
33. Functional characterization of the carnitine transporter defective in primary carnitine deficiency. Scaglia F; Wang Y; Longo N Arch Biochem Biophys; 1999 Apr; 364(1):99-106. PubMed ID: 10087170 [TBL] [Abstract][Full Text] [Related]
34. Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. Shibbani K; Fahed AC; Al-Shaar L; Arabi M; Nemer G; Bitar F; Majdalani M Clin Genet; 2014 Feb; 85(2):127-37. PubMed ID: 23379544 [TBL] [Abstract][Full Text] [Related]
35. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Gallant NM; Leydiker K; Wilnai Y; Lee C; Lorey F; Feuchtbaum L; Tang H; Carter J; Enns GM; Packman S; Lin HJ; Wilcox WR; Cederbaum SD; Abdenur JE Mol Genet Metab; 2017 Nov; 122(3):76-84. PubMed ID: 28711408 [TBL] [Abstract][Full Text] [Related]
36. Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. Lamhonwah AM; Tein I Biochem Biophys Res Commun; 1998 Nov; 252(2):396-401. PubMed ID: 9826541 [TBL] [Abstract][Full Text] [Related]