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JIMD Reports|November 10, 2017
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of TherapyRaajiv Prasad, Jane Estrella, John Christodoulou, et al.JIMD Reports|November 11, 2017
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac TransplantationC Bursle, R Weintraub, C Ward, et al.JIMD Reports|December 8, 2017
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs DiseaseKarolina M Stepien, Su Han Lum, J Edmond Wraith, et al.JIMD Reports|November 25, 2017
The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in PhenylketonuriaMaureen Evans, Kay Nguo, Avihu Boneh, et al.JIMD Reports|September 25, 2017
Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in AlkaptonuriaM Khedr, S Judd, M C Briggs, et al.JIMD Reports|June 27, 2016
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe DiseaseGyani Swift, Maureen Cleary, Stephanie Grunewald, et al.JIMD Reports|June 29, 2016
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type IICamelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, et al.JIMD Reports|July 30, 2017
Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]Annukka Lehtonen, Stewart Rust, Simon Jones, et al.JIMD Reports|July 30, 2017
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-UpIrene C Huffnagel, Egbert J W Redeker, Liesbeth Reneman, et al.JIMD Reports|July 16, 2017
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with MiglustatElizabeth A Bowman, Dennis Velakoulis, Patricia Desmond, et al.Pageof 125