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Journal of Inherited Metabolic Disease|November 4, 2008
Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasiansJ P Oliveira, S Ferreira, J Barceló, et al.Journal of Inherited Metabolic Disease|June 30, 2009
IgM monoclonal component associated with type I Gaucher disease resolved after enzyme replacement therapy: a case reportC Martinez-Redondo, F J Ortuño, M L Lozano, et al.Journal of Inherited Metabolic Disease|July 10, 2009
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemiasL Filippi, E Gozzini, C Cavicchi, et al.Journal of Inherited Metabolic Disease|July 9, 2009
Experience with the treatment of argininosuccinic aciduria during pregnancyL Reid, E Perreault, G Lafrance, et al.Journal of Inherited Metabolic Disease|March 25, 2009
Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapyS Yano, K Moseley, Z PavlovaJournal of Inherited Metabolic Disease|February 5, 2009
Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?F J van Spronsen, Marieke Hoeksma, Dirk-Jan ReijngoudJournal of Inherited Metabolic Disease|February 5, 2009
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort studyJ H Walter, A Patterson, J Till, et al.Journal of Inherited Metabolic Disease|February 6, 2009
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU statusB Kohlschütter, M Ellerbrok, M Merkel, et al.Journal of Inherited Metabolic Disease|October 29, 2008
Quality of life in noncompliant adults with phenylketonuria after resumption of the dietM Bik-Multanowski, B Didycz, R Mozrzymas, et al.Journal of Inherited Metabolic Disease|October 29, 2008
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemiaJ Velázquez-Aragón, M A Alcántara-Ortigoza, M Vela-Amieva, et al.Pageof 429