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JIMD Reports|August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 MutationMatthew A Lines, C Anthony Rupar, Jack W Rip, et al.JIMD Reports|October 8, 2013
Novel association of early onset hepatocellular carcinoma with transaldolase deficiencyCharles A Leduc, Elizabeth E Crouch, Ashley Wilson, et al.JIMD Reports|September 29, 2017
Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal ScreeningHardo Lilleväli, Karit Reinson, Kai Muru, et al.JIMD Reports|October 6, 2017
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase DeficiencyAbdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, et al.JIMD Reports|October 15, 2017
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical FeaturesErin Conboy, Filippo Vairo, Matthew Schultz, et al.JIMD Reports|February 27, 2018
Metabolomics Profile in ABAT Deficiency Pre- and Post-treatmentMary Kay Koenig, Penelope E BonnenJIMD Reports|January 3, 2018
Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1Karolina M Stepien, Gregory M Pastores, Una Hendroff, et al.JIMD Reports|November 20, 2019
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyriaHetanshi Naik, Jessica R Overbey, Robert J Desnick, et al.JIMD Reports|February 18, 2018
Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome SequencingWilliam A Zeiger, Nasheed I Jamal, Maren T Scheuner, et al.JIMD Reports|July 2, 2016
Gastrointestinal Health in Classic GalactosemiaKelly A Shaw, Jennifer G Mulle, Michael P Epstein, et al.Pageof 127