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Journal of Inherited Metabolic Disease|October 2, 2003
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T)M Linnebank, R Junker, D G Nabavi, et al.Journal of Inherited Metabolic Disease|August 6, 2008
Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphismV Ahuja, S G Powers-LeeJournal of Inherited Metabolic Disease|January 1, 1991
2-Deoxy-D-glucose uptake and fatty acid content in fibroblast cultures from children with syndromic paucity of interlobular bile ducts (Alagille syndrome)M Couturier, F LemonnierJournal of Inherited Metabolic Disease|September 10, 2008
L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variabilityA Larnaout, R Amouri, M Kefi, et al.Journal of Inherited Metabolic Disease|February 13, 2010
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcomeJaap A Bakker, Patrick Schlesser, Hubert J M Smeets, et al.Journal of Inherited Metabolic Disease|February 13, 2010
Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosisCristine Åsberg, Ola Hjalmarson, Jan Alm, et al.Journal of Inherited Metabolic Disease|February 17, 2010
Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type IIBeatriz San Millan, Susana Teijeira, Carmen Domínguez, et al.Journal of Inherited Metabolic Disease|February 18, 2010
Therapeutic approaches for neuronopathic lysosomal storage disordersRaphael SchiffmannJournal of Inherited Metabolic Disease|February 24, 2010
The risk of Parkinson's disease in type 1 Gaucher diseaseGilberto Bultron, Katherine Kacena, Daniel Pearson, et al.Journal of Inherited Metabolic Disease|September 28, 2016
Angiogenesis in alkaptonuriaLia Millucci, Giulia Bernardini, Barbara Marzocchi, et al.Pageof 429