170 related articles for article (PubMed ID: 17926086)
1. Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.
Cano A; Ovaert C; Vianey-Saban C; Chabrol B
Pediatr Cardiol; 2008 Jan; 29(1):163-5. PubMed ID: 17926086
[TBL] [Abstract][Full Text] [Related]
2. Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
Hwu WL; Chien YH; Tang NL; Law LK; Lin CY; Lee NC
J Inherit Metab Dis; 2007 Oct; 30(5):816. PubMed ID: 17703373
[TBL] [Abstract][Full Text] [Related]
3. Carnitine transport and fatty acid oxidation.
Longo N; Frigeni M; Pasquali M
Biochim Biophys Acta; 2016 Oct; 1863(10):2422-35. PubMed ID: 26828774
[TBL] [Abstract][Full Text] [Related]
4. Rare case of primary carnitine deficiency presenting as acute liver failure.
Jain S; Kumar K; Malhotra S; Sibal A
BMJ Case Rep; 2022 Jul; 15(7):. PubMed ID: 35853679
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation.
Jakoby M; Jaju A; Marsh A; Wilber A
J Investig Med High Impact Case Rep; 2021; 9():23247096211019543. PubMed ID: 34032155
[TBL] [Abstract][Full Text] [Related]
8. A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.
Basan H; Azak E; Çetin İİ; Kiliç E; Bilginer Gürbüz B; Özbey SZ; Kasapkara ÇS
Mol Syndromol; 2024 Mar; 15(2):156-160. PubMed ID: 38585546
[TBL] [Abstract][Full Text] [Related]
9. Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
Deswal S; Bijarnia-Mahay S; Manocha V; Hara K; Shigematsu Y; Saxena R; Verma IC
Indian J Pediatr; 2017 Jan; 84(1):83-85. PubMed ID: 27581592
[TBL] [Abstract][Full Text] [Related]
10. Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
Makhseed N; Vallance HD; Potter M; Waters PJ; Wong LT; Lillquist Y; Pasquali M; Amat di San Filippo C; Longo N
J Inherit Metab Dis; 2004; 27(6):778-80. PubMed ID: 15617188
[TBL] [Abstract][Full Text] [Related]
11. Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.
Melegh B; Bene J; Mogyorósy G; Havasi V; Komlósi K; Pajor L; Oláh E; Kispál G; Sumegi B; Méhes K
Am J Med Genet A; 2004 Dec; 131(2):121-6. PubMed ID: 15487009
[TBL] [Abstract][Full Text] [Related]
12. Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Grünert SC; Tucci S; Schumann A; Schwendt M; Gramer G; Hoffmann GF; Erbel M; Stiller B; Spiekerkoetter U
Orphanet J Rare Dis; 2020 Apr; 15(1):87. PubMed ID: 32276632
[TBL] [Abstract][Full Text] [Related]
13. Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.
Rahbeeni Z; Vaz FM; Al-Hussein K; Bucknall MP; Ruiter J; Wanders RJ; Rashed MS
J Inherit Metab Dis; 2002 Sep; 25(5):363-9. PubMed ID: 12408185
[TBL] [Abstract][Full Text] [Related]
14. Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.
Komlósi K; Magyari L; Talián GC; Nemes E; Káposzta R; Mogyorósy G; Méhes K; Melegh B
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S15-9. PubMed ID: 19238580
[TBL] [Abstract][Full Text] [Related]
15. A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Jolfayi AG; Naderi N; Ghasemi S; Salmanipour A; Adimi S; Maleki M; Kalayinia S
BMC Cardiovasc Disord; 2024 Jan; 24(1):1. PubMed ID: 38166572
[TBL] [Abstract][Full Text] [Related]
16. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).
Tamai I
Biopharm Drug Dispos; 2013 Jan; 34(1):29-44. PubMed ID: 22952014
[TBL] [Abstract][Full Text] [Related]
17. Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
Han L; Wang F; Wang Y; Ye J; Qiu W; Zhang H; Gao X; Gong Z; Gu X
Eur J Med Genet; 2014 Oct; 57(10):571-5. PubMed ID: 25132046
[TBL] [Abstract][Full Text] [Related]
18. Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency.
Hanington OP; Armstrong C; Pierre G; Stuart G; Hancox JC
Ann Noninvasive Electrocardiol; 2023 Nov; 28(6):e13077. PubMed ID: 37658577
[TBL] [Abstract][Full Text] [Related]
19. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.
Kilic M; Ozgül RK; Coşkun T; Yücel D; Karaca M; Sivri HS; Tokatli A; Sahin M; Karagöz T; Dursun A
JIMD Rep; 2012; 3():17-23. PubMed ID: 23430869
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.
Lahrouchi N; Lodder EM; Mansouri M; Tadros R; Zniber L; Adadi N; Clur SB; van Spaendonck-Zwarts KY; Postma AV; Sefiani A; Ratbi I; Bezzina CR
Eur J Hum Genet; 2017 Jun; 25(6):783-787. PubMed ID: 28295041
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
