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JIMD Reports|February 20, 2020
Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single-center studyJessica Tao, C Anthony Rupar, Michael R Miller, et al.JIMD Reports|November 18, 2020
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case reportParith Wongkittichote, James R Watson, Jennifer M Leonard, et al.JIMD Reports|November 18, 2020
Neonatal carnitine concentrations in relation to gestational age and weightLoek L Crefcoeur, Monique G M de Sain-van der Velden, Sacha Ferdinandusse, et al.JIMD Reports|September 9, 2020
Use of carglumic acid in valproate-induced hyperammonemia: 25 pediatric casesLaura María Palomino Pérez, Álvaro Martín-Rivada, Elvira Cañedo Villaroya, et al.JIMD Reports|September 9, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotypeKatalin Komlosi, Selina Gläser, Julia Kopp, et al.JIMD Reports|September 9, 2020
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosisTracey A Conlon, Patricia E Fitzsimons, Ingrid Borovickova, et al.JIMD Reports|September 9, 2020
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVASharon J Chin, Jennifer T Saville, Belinda K McDermott, et al.JIMD Reports|September 9, 2020
Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophiliaChris Mühlhausen, Lisa Henneke, Lars Schlotawa, et al.JIMD Reports|November 20, 2019
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP geneKristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, et al.JIMD Reports|November 20, 2019
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinosesAbdulhakim Jilani, Diana Matviychuk, Susan Blaser, et al.Pageof 127