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JIMD Reports|July 7, 2014
Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrumMaria G Alessandrì, Manuela Casarano, Ilaria Pezzini, et al.
JIMD Reports|August 26, 2015
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature ReviewJ Hatch, D Coman, P Clayton, et al.
JIMD Reports|August 26, 2015
Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and ValidityA Ahmed, K Rudser, A Kunin-Batson, et al.
JIMD Reports|August 26, 2015
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid LevelsMaria João Nabais Sá, Júlio C Rocha, Manuela F Almeida, et al.
JIMD Reports|August 26, 2015
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type IKatalin M Ross, Laurie M Brown, Michelle M Corrado, et al.
JIMD Reports|March 11, 2016
Disease Heterogeneity in Na<sup>+</sup>/Citrate Cotransporter DeficiencyIrina Anselm, Morgan MacCuaig, Sanjay B Prabhu, et al.
JIMD Reports|August 25, 2017
High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIBO L M Meijer, P van den Biggelaar, R Ofman, et al.
JIMD Reports|August 3, 2017
Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of AscertainmentPaula J Waters, Thomas M Kitzler, Annette Feigenbaum, et al.
JIMD Reports|June 14, 2016
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot StudyW Todd Cade, Dominic N Reeds, Linda R Peterson, et al.
JIMD Reports|June 14, 2016
The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan DiseaseMatthias Lauber, Barbara Plecko, Miriam Pfiffner, et al.
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