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JIMD Reports|June 21, 2017
Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn ScreeningR S Carling, D Burden, I Hutton, et al.JIMD Reports|July 13, 2017
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested PathomechanismsMarcel du Moulin, Bastian Thies, Martin Blohm, et al.JIMD Reports|April 15, 2018
Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the LiteratureJosefine Loeb, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, et al.JIMD Reports|June 21, 2018
Sialuria: Ninth Patient Described Has a Novel Mutation in GNENoelia Nunez Martinez, Michelle Lipke, Jacqueline Robinson, et al.JIMD Reports|February 15, 2015
Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic AcidosisE J Bhoj, M Li, R Ahrens-Nicklas, et al.JIMD Reports|February 15, 2015
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot StudyMary Ellen Lynch, Nancy L Potter, Claire D Coles, et al.JIMD Reports|February 15, 2015
Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and HyponatraemiaMarcus Brecht, Malcolm Richardson, Ajay Taranath, et al.JIMD Reports|February 19, 2015
Severe neonatal holocarboxylase synthetase deficiency in west african siblingsMauricio De Castro, Dina J Zand, Uta Lichter-Konecki, et al.JIMD Reports|February 22, 2015
A Retrospective Survey Studying the Impact of Fabry Disease on PregnancyAlexandrea Holmes, Dawn LaneyJIMD Reports|January 24, 2015
Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe diseaseErin R McNamara, Stephanie Austin, Laura Case, et al.Pageof 127