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Journal of Inherited Metabolic Disease|December 15, 2011
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelinesManuel Schiff, Pierre Broue, Brigitte Chabrol, et al.Journal of Inherited Metabolic Disease|February 24, 2012
Cultural aspects in the management of inborn errors of metabolismSylvia Stockler, Dorothea Moeslinger, Marion Herle, et al.Journal of Inherited Metabolic Disease|January 1, 1990
A retrospective study of a patient with homozygous form of acute intermittent porphyriaG J Beukeveld, B G Wolthers, Y Nordmann, et al.Journal of Inherited Metabolic Disease|January 1, 1990
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyriaC Picat, M H Delfau, F W de Rooij, et al.Journal of Inherited Metabolic Disease|January 1, 1990
Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease)Y Nordmann, D Amram, J C Deybach, et al.Journal of Inherited Metabolic Disease|September 20, 2011
Alkaptonuria in France: past experience and lessons for the futureRobert Raphael AquaronJournal of Inherited Metabolic Disease|October 18, 2011
Prediction of long-term outcome in glycine encephalopathy: a clinical surveyJulia B Hennermann, Jeanne-Marie Berger, Ulrike Grieben, et al.Journal of Inherited Metabolic Disease|November 10, 2011
Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBCEva Thimm, Renate Richter-Werkle, Gudrun Kamp, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Blood-brain barrier transport of amino acids in healthy controls and in patients with phenylketonuriaG M Knudsen, S Hasselbalch, P B Toft, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Non-ketotic hyperglycinaemia presenting as pachygyriaJ M Fletcher, A M Bye, V Nayanar, et al.Pageof 429