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Journal of Inherited Metabolic Disease|September 10, 2005
Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapyG Ciana, R Addobbati, G Tamaro, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Fumarase deficiency presenting with periventricular cystsJ Loeffen, R Smeets, T Voit, et al.Journal of Inherited Metabolic Disease|June 29, 2022
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemiaLeah E Venturoni, Charles P VendittiJournal of Inherited Metabolic Disease|June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaHeiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.Journal of Inherited Metabolic Disease|July 21, 2021
Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden deathKevin Chevalier, Nadia Benyounes, Michaël Alexandre Obadia, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Diagnosis of classical Morquio's disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villiM Yuen, A H FensomJournal of Inherited Metabolic Disease|January 1, 1985
Decreased procollagen production in cultured fibroblasts from patients with Lowe's syndromeM J Palmieri, J O'Hara, B States, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Intracellular activity of HPRT Cape Town: purine uptake and growth of cultured cells in selective mediaL M Steyn, E H HarleyJournal of Inherited Metabolic Disease|January 1, 1985
Disturbed metabolism of copper and zinc in aspartylglycosaminuria: possible involvement with connective tissue changesK Näntö-Salonen, T Halme, R Penttinen, et al.Pageof 429