Original Article
Online First™Open AccessMucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
Marion M. M. G. Brands, Ingrid M. Frohn-Mulder, Marloes L. C. Hagemans, Wim C. J. Hop and Esmee Oussoren, et al.
Online First™, 25 January 2012
SSIEM Symposium 2011
Online First™Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers
Olivier Braissant
Online First™, 18 January 2012
Original Article
Online First™Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
Tamaris Zwickler, Gisela Haege, Alina Riderer, Friederike Hörster and Georg F. Hoffmann, et al.
Online First™, 17 January 2012
Original Article
Online First™Open AccessThe measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency
Eduard A. Struys, Levinus A. Bok, Dina Emal, Saskia Houterman and Michel A. Willemsen, et al.
Online First™, 17 January 2012
Review
Online First™Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
Senthil Senniappan, Balasubramaniam Shanti, Chela James and Khalid Hussain
Online First™, 9 January 2012
Original Article
Online First™Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
Tomas Honzik, Marketa Tesarova, Martin Magner, Johannes Mayr and Pavel Jesina, et al.
Online First™, 9 January 2012
Original Article
Online First™Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI
Shawn E. Christ, Amanda J. Moffitt, Dawn Peck, Desirée A. White and Joseph Hilgard
Online First™, 9 January 2012
Original Article
Online First™Endothelial function in children and adolescents with mucopolysaccharidosis
Aaron S. Kelly, Andrea M. Metzig, Julia Steinberger and Elizabeth A. Braunlin
Online First™, 9 January 2012
Original Article
Online First™Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America
Roberto Giugliani
Online First™, 9 January 2012
SSIEM Symposium 2011
Online First™Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)
Rita Horvath
Online First™, 9 January 2012