Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.

Heiner-Fokkema, M Rebecca; Vaz, Frédéric M; Maatman, Ronald; Kluijtmans, Leo A J; van Spronsen, Francjan J; Reijngoud, Dirk-Jan.

Afiliação

Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Room Y2.125, HPA EA60, 30.001, NL-9700 RB, Groningen, The Netherlands. m.r.heiner@umcg.nl.
Vaz FM; Department of Clinical Chemistry and Pediatrics, Laboratory of Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Maatman R; Medlon BV, Enschede, The Netherlands.
Kluijtmans LA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
van Spronsen FJ; Division of Metabolic Diseases, University Medical Center Groningen, University of Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
Reijngoud DJ; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Room Y2.125, HPA EA60, 30.001, NL-9700 RB, Groningen, The Netherlands.

JIMD Rep ; 32: 33-39, 2017.

Article em En | MEDLINE | ID: mdl-27295194