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Journal of Inherited Metabolic Disease|January 1, 1989
Homocitrullinuria and homoargininuria in lysinuric protein intoleranceT Kato, M Sano, N MizutaniJournal of Inherited Metabolic Disease|January 1, 1991
Increased levels of DHEAS in serum of patients with X-linked ichthyosisA Milone, M Delfino, A Piccirillo, et al.Journal of Inherited Metabolic Disease|May 3, 2014
X-linked creatine transporter deficiency: clinical aspects and pathophysiologyJiddeke M van de Kamp, Grazia M Mancini, Gajja S SalomonsJournal of Inherited Metabolic Disease|April 2, 2014
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulatorsAnia C Muntau, João Leandro, Michael Staudigl, et al.Journal of Inherited Metabolic Disease|April 9, 2014
Lysosomal diseases: diagnostic updateBryan WinchesterJournal of Inherited Metabolic Disease|March 27, 2014
Treating inborn errors of liver metabolism with stem cells: current clinical developmentEtienne Marc SokalJournal of Inherited Metabolic Disease|May 7, 2014
Modelling inborn errors of metabolism in zebrafishKim Wager, Fahad Mahmood, Claire RussellJournal of Inherited Metabolic Disease|May 7, 2014
Mitochondrial transporters of the SLC25 family and associated diseases: a reviewFerdinando PalmieriJournal of Inherited Metabolic Disease|October 16, 2016
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathologyMark J Osborn, Beau R Webber, Ronald T McElmurry, et al.Journal of Inherited Metabolic Disease|May 10, 2014
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled studyChristian J Hendriksz, Barbara Burton, Thomas R Fleming, et al.Pageof 429