Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

Autor: Rijlaarsdam, RS, van Spronsen, FJ, Bink-Boelkens, MTE, Reijngoud, DJ, Niezen-Koning, KE, Van der Sluijs, FH, Dorland, B, Beaufort-Krol, GCM

Publikováno v: Pace-Pacing and Clinical Electrophysiology, 27(5), 675-676. Wiley

This case report describes ventricular fibrillation without overt cardiomyopathy us the presenting symptom of primary carnitine deficiency due to organic cation transporter 2 (OCTN2)-deficiency in a 15-year-old girl. Normally this disease presents ea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::e8d53ff64e7cc2c00cb5b103f763d81a
https://research.rug.nl/en/publications/24f5e19e-967f-48d9-90b3-58e2685bbaef

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

Autor: Verheij JB; Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Box 30.001, 9700 RB Groningen, The Netherlands. j.b.g.m.verheij@medgen.umcg.nl, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2009 Sep-Oct; Vol. 52 (5), pp. 353-7. Date of Electronic Publication: 2009 May 21.

Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence.

Autor: Rijlaarsdam RS; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, Groningen, The Netherlands., van Spronsen FJ, Bink-Boelkens MT, Reijngoud DJ, Wanders RJ, Niezen-Koning KE, Van der Sluijs FH, Dorland B, Beaufort-Krol GC

Publikováno v: Pacing and clinical electrophysiology : PACE [Pacing Clin Electrophysiol] 2004 May; Vol. 27 (5), pp. 675-6.