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Journal of Inherited Metabolic Disease|September 21, 2011
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessmentLars Hoffmann, Ulrike Haussmann, Martina Mueller, et al.Journal of Inherited Metabolic Disease|May 18, 2011
Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to realityKim M Hemsley, John J HopwoodJournal of Inherited Metabolic Disease|December 23, 2011
Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patientsPaula B M Luís, Jos P Ruiter, Lodewijk IJlst, et al.Journal of Inherited Metabolic Disease|December 23, 2011
Newborn screening for lysosomal storage diseases: an ethical and policy analysisLainie Friedman RossJournal of Inherited Metabolic Disease|February 1, 2012
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapyCaroline Regnery, Cornelia Kornblum, Frank Hanisch, et al.Journal of Inherited Metabolic Disease|February 3, 2012
Internet use by parents of infants with positive newborn screensJane M DeLuca, Margaret H Kearney, Sally A Norton, et al.Journal of Inherited Metabolic Disease|January 18, 2012
The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiencyEduard A Struys, Levinus A Bok, Dina Emal, et al.Journal of Inherited Metabolic Disease|January 19, 2012
Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriersOlivier BraissantJournal of Inherited Metabolic Disease|October 20, 2011
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapyC M van Gelder, C I van Capelle, B J Ebbink, et al.Journal of Inherited Metabolic Disease|October 29, 2011
Mutation analysis in 54 propionic acidemia patientsJ P Kraus, E Spector, S Venezia, et al.Pageof 429