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Journal of Inherited Metabolic Disease|October 28, 2010
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type IIG Schulze-Frenking, Simon A Jones, J Roberts, et al.Journal of Inherited Metabolic Disease|September 4, 2010
Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiencyL Henneman, M S Schneiders, M Turkenburg, et al.Journal of Inherited Metabolic Disease|October 1, 2010
Voice disorders in children with classic galactosemiaNancy L PotterJournal of Inherited Metabolic Disease|July 24, 2010
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domainEster Quintana, Mercé Pineda, Aida Font, et al.Journal of Inherited Metabolic Disease|July 24, 2010
Molecular correlates of epilepsy in early diagnosed and treated Menkes diseaseStephen G Kaler, Clarissa J Liew, Anthony Donsante, et al.Journal of Inherited Metabolic Disease|July 15, 2010
Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)Helena Hůlková, Milan EllederJournal of Inherited Metabolic Disease|July 8, 2010
The neuropsychological profile of galactosaemiaClaire M Doyle, Shelley Channon, Danuta Orlowska, et al.Journal of Inherited Metabolic Disease|July 30, 2010
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff valuesThomas Opladen, Jürgen G Okun, Peter Burgard, et al.Journal of Inherited Metabolic Disease|July 30, 2010
Cerebral folate deficiencyKeith Hyland, John Shoffner, Simon J HealesJournal of Inherited Metabolic Disease|August 10, 2010
Simultaneous LC-MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urineMaurice D Laryea, Diran Herebian, Thomas Meissner, et al.Pageof 429