Issue 1/2015
Complex Lipids
Content (17 Articles)
An overview of inborn errors of complex lipid biosynthesis and remodelling
Foudil Lamari, Fanny Mochel, Jean-Marie Saudubray
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
Àngels Garcia-Cazorla, Fanny Mochel, Foudil Lamari, Jean-Marie Saudubray
Principles and practice of lipidomics
Frédéric M. Vaz, Mia Pras-Raves, Albert H. Bootsma, Antoine H. C. van Kampen
Lipidomic analysis of cerebrospinal fluid by mass spectrometry–based methods
Benoit Colsch, Alexandre Seyer, Samia Boudah, Christophe Junot
Human genetic disorders of sphingolipid biosynthesis
Leonardo Astudillo, Frédérique Sabourdy, Nicole Therville, Heiko Bode, Bruno Ségui, Nathalie Andrieu-Abadie, Thorsten Hornemann, Thierry Levade
The consequences of genetic and pharmacologic reduction in sphingolipid synthesis
Raphael Schiffmann
Inborn errors of cytoplasmic triglyceride metabolism
Jiang Wei Wu, Hao Yang, Shu Pei Wang, Krishnakant G. Soni, Catherine Brunel-Guitton, Grant A. Mitchell
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
Saskia B. Wortmann, Marc Espeel, Ligia Almeida, Annette Reimer, Dennis Bosboom, Frank Roels, Arjan P.M. de Brouwer, Ron A. Wevers
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome
Ana R. Malheiro, Tiago Ferreira da Silva, Pedro Brites
Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron
Cristina Colombelli, Manar Aoun, Valeria Tiranti
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency
Maria Andrea Desbats, Giada Lunardi, Mara Doimo, Eva Trevisson, Leonardo Salviati
Genetic defects in dolichol metabolism
Anna Buczkowska, Ewa Swiezewska, Dirk J. Lefeber
Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)
Bobby G. Ng, Hudson H. Freeze