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Journal of Inherited Metabolic Disease|March 6, 2007
Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanineR Matalon, K Michals-Matalon, G Bhatia, et al.Journal of Inherited Metabolic Disease|March 6, 2007
Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potentialJ A Arranz, E Riudor, C Marco-Marín, et al.Journal of Inherited Metabolic Disease|June 16, 2007
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease IaN C den Hollander, D J Mulder, R Graaff, et al.Journal of Inherited Metabolic Disease|July 3, 2007
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 yearY-H Chien, N-C Lee, L-K Tsai, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Hereditary variation of liver enzymes involved with detoxification and neurodegenerative diseaseA C Williams, G B Steventon, S Sturman, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Alpha 1-antitrypsin deficiency and liver diseaseP Birrer, N G McElvaney, L M Chang-Stroman, et al.Journal of Inherited Metabolic Disease|January 1, 1991
The role of histochemical investigations in metabolic disorders affecting the liverB D LakeJournal of Inherited Metabolic Disease|January 1, 1991
Niemann-Pick disease type C: an updateM T Vanier, P Pentchev, C Rodriguez-Lafrasse, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Paediatric liver transplantation: review of current experienceJ A BuckelsPageof 429