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JIMD Reports|December 2, 2015
Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse BrainHelen Beard, Sofia Hassiotis, Amanda J Luck, et al.JIMD Reports|August 5, 2015
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)Piero Farruggia, Andrea Di Cataldo, Rita M Pinto, et al.JIMD Reports|August 5, 2015
Transaldolase Deficiency: A New Case Expands the Phenotypic SpectrumEhud Banne, Vardiella Meiner, Avraham Shaag, et al.JIMD Reports|August 5, 2015
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Jillian P Casey, Ellen Crushell, Kyle Thompson, et al.JIMD Reports|October 14, 2014
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type IRichard D Beegle, Laurie M Brown, David A WeinsteinJIMD Reports|August 27, 2014
The complexity of newborn screening follow-up in phenylketonuriaLeah E Hecht, Ann E Wessel, Harvey L Levy, et al.JIMD Reports|August 27, 2014
Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional surveyNesrin Karabul, Anika Skudlarek, Janine Berndt, et al.JIMD Reports|August 27, 2014
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IVHayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, et al.JIMD Reports|November 22, 2017
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-PairJessie C Jacobsen, Whitney Whitford, Brendan Swan, et al.JIMD Reports|December 8, 2017
Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye DropsAhmed Reda, Ann Van Schepdael, Erwin Adams, et al.Pageof 127