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Journal of Inherited Metabolic Disease|December 23, 2015
Biosynthesis of glycosaminoglycans: associated disorders and biochemical testsFlorin Sasarman, Catalina Maftei, Philippe M Campeau, et al.Journal of Inherited Metabolic Disease|November 25, 2015
Acute fatal metabolic complications in alkaptonuriaA S Davison, A M Milan, J A Gallagher, et al.Journal of Inherited Metabolic Disease|December 9, 2015
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic optionsChristian Staufner, Martin Lindner, Carlo Dionisi-Vici, et al.Journal of Inherited Metabolic Disease|October 27, 2015
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorderJessie C Jacobsen, Callum Wilson, Vicki Cunningham, et al.Journal of Inherited Metabolic Disease|February 3, 2016
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in miceGermaine Korner, Tanja Scherer, Dea Adamsen, et al.Journal of Inherited Metabolic Disease|February 25, 2016
Altered mTOR signalling in nephropathic cystinosisEkaterina A Ivanova, Lambertus P van den Heuvel, Mohamed A Elmonem, et al.Journal of Inherited Metabolic Disease|August 2, 2015
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient miceSapna Gupta, Liqun Wang, Warren D KrugerJournal of Inherited Metabolic Disease|January 1, 1989
Homocysteine, factor VII and antithrombin III in subjects with different gene dosage for cystathionine beta-synthaseL Brattström, B Israelsson, L Tengborn, et al.Journal of Inherited Metabolic Disease|October 24, 2014
Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduriaZoltan Patay, Brent A Orr, Barry L Shulkin, et al.Journal of Inherited Metabolic Disease|January 21, 2015
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patientsElise Lebigot, Anaïs Brassier, Mokhtar Zater, et al.Pageof 429