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7. Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. Waber LJ; Valle D; Neill C; DiMauro S; Shug A J Pediatr; 1982 Nov; 101(5):700-5. PubMed ID: 7131143 [TBL] [Abstract][Full Text] [Related]
8. Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency. Scaglia F; Wang Y; Singh RH; Dembure PP; Pasquali M; Fernhoff PM; Longo N Genet Med; 1998; 1(1):34-9. PubMed ID: 11261427 [TBL] [Abstract][Full Text] [Related]
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10. Cardiomyopathy and carnitine deficiency. Amat di San Filippo C; Taylor MR; Mestroni L; Botto LD; Longo N Mol Genet Metab; 2008 Jun; 94(2):162-6. PubMed ID: 18337137 [TBL] [Abstract][Full Text] [Related]
11. Muscle carnitine deficiency and fatal cardiomyopathy. Hart ZH; Chang CH; Di Mauro S; Farooki Q; Ayyar R Neurology; 1978 Feb; 28(2):147-51. PubMed ID: 563997 [TBL] [Abstract][Full Text] [Related]
12. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Stanley CA; DeLeeuw S; Coates PM; Vianey-Liaud C; Divry P; Bonnefont JP; Saudubray JM; Haymond M; Trefz FK; Breningstall GN Ann Neurol; 1991 Nov; 30(5):709-16. PubMed ID: 1763895 [TBL] [Abstract][Full Text] [Related]
13. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. Wang Y; Taroni F; Garavaglia B; Longo N Hum Mutat; 2000 Nov; 16(5):401-7. PubMed ID: 11058897 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. [A cause of dilated cardiomyopathy in a child: primary carnitine deficiency]. Baragou S; Pio M; Di Bernardo S; Ksontini TB; Dommange SJ; Bonafe L; Meijboom E; Sekarski N Ann Cardiol Angeiol (Paris); 2014 Apr; 63(2):107-10. PubMed ID: 22260907 [TBL] [Abstract][Full Text] [Related]
16. Cardiomyopathy associated with carnitine loss in kidneys and small intestine. Rodrigues Pereira R; Scholte HR; Luyt-Houwen IE; Vaandrager-Verduin MH Eur J Pediatr; 1988 Dec; 148(3):193-7. PubMed ID: 3215194 [TBL] [Abstract][Full Text] [Related]
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19. Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Matsuishi T; Hirata K; Terasawa K; Kato H; Yoshino M; Ohtaki E; Hirose F; Nonaka I; Sugiyama N; Ohta K Neuropediatrics; 1985 Feb; 16(1):6-12. PubMed ID: 3974805 [TBL] [Abstract][Full Text] [Related]
20. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Wang Y; Ye J; Ganapathy V; Longo N Proc Natl Acad Sci U S A; 1999 Mar; 96(5):2356-60. PubMed ID: 10051646 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]