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JIMD Reports|November 22, 2015
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb ContracturesHeather M Byers, Robin L Bennett, Emily A Malouf, et al.JIMD Reports|November 27, 2015
A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC DefectJenny Bellerose, Mathilde Neugnot-Cerioli, Karine Bédard, et al.JIMD Reports|November 30, 2015
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VIDenise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F de Souza, et al.JIMD Reports|May 22, 2016
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?Ivo Barić, Sahin Erdol, Halil Saglam, et al.JIMD Reports|November 5, 2014
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype CorrelationAllan Bayat, Mette Christensen, Flemming Wibrand, et al.JIMD Reports|June 14, 2016
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in SiblingsAnnely Richardson, Gerard T Berry, Cheryl Garganta, et al.JIMD Reports|June 27, 2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderMichael Nafisinia, Yiran Guo, Xiao Dang, et al.JIMD Reports|June 15, 2016
A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in PhenylketonuriaH Blasco, C Veyrat-Durebex, M Bertrand, et al.JIMD Reports|February 23, 2016
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/SerumP Ruiz Sala, G Ruijter, C Acquaviva, et al.JIMD Reports|February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMAMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.Pageof 127