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JIMD Reports|September 3, 2013
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin TreatmentJessica Nouws, Flemming Wibrand, Mariël van den Brand, et al.JIMD Reports|September 20, 2013
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic VariabilityLubov Blumkin, Esther Leshinsky-Silver, Ayelet Zerem, et al.JIMD Reports|September 5, 2013
Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe DiseaseJ Baruteau, A Broomfield, V Crook, et al.JIMD Reports|December 20, 2015
Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of AgeP Burgard, E Mönch, J Zschocke, et al.JIMD Reports|November 22, 2015
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)Fatma A Al-Jasmi, Aisha Al-Shamsi, Jozef L Hertecant, et al.JIMD Reports|November 30, 2015
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency SyndromeEmanuele Barca, Maoxue Tang, Giulio Kleiner, et al.JIMD Reports|August 5, 2015
TMEM165 Deficiency: Postnatal Changes in GlycosylationS Schulte Althoff, M Grüneberg, J Reunert, et al.JIMD Reports|October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, et al.JIMD Reports|October 27, 2015
Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry CardiomyopathyJohannes Krämer, Peter Nordbeck, Stefan Störk, et al.JIMD Reports|October 24, 2015
Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a SubstrateYoo Choi, Alexander B Tuzikov, Tatyana V Ovchinnikova, et al.Pageof 127