Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Rijlaarsdam, RS"'
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
https://research.rug.nl/en/publications/24f5e19e-967f-48d9-90b3-58e2685bbaef
Publikováno v:
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2017; Vol. 161, pp. D954.
Autor:
Kocaaga, A.1 (AUTHOR) dr.aycacelikmakas@hotmail.com, Yimenicioglu, S.2 (AUTHOR), Atikel, Y. Özdemir3 (AUTHOR), Yavuz, O. Özkale4 (AUTHOR)
Publikováno v:
Ophthalmic Genetics. Aug2023, Vol. 44 Issue 4, p396-400. 5p.
Publikováno v:
Italian Journal of Pediatrics. 7/7/2023, Vol. 49 Issue 1, p1-22. 22p.
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.
Autor:
Rijlaarsdam RS; Leids Universitair Medisch Centrum, afd. Kindergeneeskunde, Leiden. rsrijlaarsdam@hotmail.com, van Diepen MM, Wit JM
Publikováno v:
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2005 May 21; Vol. 149 (21), pp. 1137-41.
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.
Autor:
Crefcoeur, Loek, Ferdinandusse, Sacha, van der Crabben, Saskia N., Dekkers, Eugènie, Fuchs, Sabine A., Huidekoper, Hidde, Janssen, Mirian, Langendonk, Janneke, Maase, Rose, de Sain, Monique, Rubio, Estela, van Spronsen, Francjan J., Vaz, Frédéric Maxime, Verschoof, Rendelien, de Vries, Maaike, Wijburg, Frits, Visser, Gepke, Langeveld, Mirjam
Publikováno v:
Journal of Medical Genetics; Dec2023, Vol. 60 Issue 12, p1177-1185, 13p
Autor:
Louis, Lebreton, Margaux, Gaschignard, Claire, Guibet, Delphine, Lamireau, Sandrine, Roche, Emmanuel, Richard, Cécile, Ged, Samir, Mesli, Isabelle, Redonnet‐Vernhet
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Jan2023, Vol. 64 Issue 1, p35-41, 7p
Autor:
Crefcoeur, Loek L., Visser, Gepke, Ferdinandusse, Sacha, Wijburg, Frits A., Langeveld, Mirjam, Sjouke, Barbara
Publikováno v:
Journal of Inherited Metabolic Disease; May2022, Vol. 45 Issue 3, p386-405, 20p